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Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.701652
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- Publication type:
- Article
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00586-9
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- Publication type:
- Article
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1327, doi. 10.1007/s00439-022-02436-x
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- Article
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1372, doi. 10.1038/ng1904
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- Publication type:
- Article
Mutational Analysis of <i>ATP8B1</i> in Patients with Chronic Pancreatitis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080553
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- Publication type:
- Article
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of <i>PRSS1</i>, <i>SPINK1</i>, <i>CTRC</i> and <i>CFTR</i> Genes in 253 Young French Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073522
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- Publication type:
- Article
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 521, doi. 10.1007/s00439-008-0508-6
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- Publication type:
- Article
Association of rare chymotrypsinogen C ( CTRC) gene variations in patients with idiopathic chronic pancreatitis.
- Published in:
- Human Genetics, 2008, v. 123, n. 1, p. 83, doi. 10.1007/s00439-007-0459-3
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- Publication type:
- Article
Assessing the pathological relevance of SPINK1 promoter variants.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1066, doi. 10.1038/ejhg.2011.79
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- Publication type:
- Article
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684
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- Publication type:
- Article
SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress.
- Published in:
- Advanced Science, 2024, v. 11, n. 38, p. 1, doi. 10.1002/advs.202402550
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- Publication type:
- Article
Common variants in glyoxalase I do not increase chronic pancreatitis risk.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0222927
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- Publication type:
- Article
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date.
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- Lipids in Health & Disease, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12944-023-01898-w
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- Publication type:
- Article
Expanding ACMG variant classification guidelines into a general framework.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00407-x
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- Publication type:
- Article
Toward a clinical diagnostic pipeline for SPINK1 intronic variants.
- Published in:
- Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-019-0193-7
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- Publication type:
- Article
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 5, p. 675, doi. 10.1097/MPG.0000000000000623
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- Publication type:
- Article
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 228, doi. 10.1002/humu.24315
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- Publication type:
- Article
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 385, doi. 10.1002/humu.24178
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- Publication type:
- Article
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
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- Human Mutation, 2021, v. 42, n. 2, p. 216, doi. 10.1002/humu.24153
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- Publication type:
- Article
5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1358, doi. 10.1002/humu.24029
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- Publication type:
- Article
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1856, doi. 10.1002/humu.23821
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- Publication type:
- Article
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1660, doi. 10.1002/humu.23343
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- Publication type:
- Article
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 1014, doi. 10.1002/humu.23269
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- Publication type:
- Article
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.
- Published in:
- Human Mutation, 2016, v. 37, n. 11, p. 1149, doi. 10.1002/humu.23053
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- Publication type:
- Article
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3605, doi. 10.1093/hmg/ddp308
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- Publication type:
- Article
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1683, doi. 10.3390/genes12111683
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- Publication type:
- Article
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
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- Genes, 2021, v. 12, n. 4, p. 471, doi. 10.3390/genes12040471
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- Publication type:
- Article
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1349, doi. 10.3390/genes11111349
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- Article