Found: 15
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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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- Article
Fast velocity estimation method for moving targets based on complex SAR image.
- Published in:
- Journal of Engineering, 2019, v. 2019, n. 20, p. 5740, doi. 10.1049/joe.2019.0306
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- Publication type:
- Article
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.
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- Genes, 2021, v. 12, n. 11, p. 1683, doi. 10.3390/genes12111683
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- Article
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
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- Lipids in Health & Disease, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12944-024-02086-0
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- 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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- Article
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.
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- Lipids in Health & Disease, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12944-023-01875-3
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- Article
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.640859
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- Article
Small Auxin Up RNA 56 (SAUR56) regulates heading date in rice.
- Published in:
- Molecular Breeding, 2023, v. 43, n. 8, p. 1, doi. 10.1007/s11032-023-01409-w
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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
The transcription factor POPEYE negatively regulates the expression of bHLH Ib genes to maintain iron homeostasis.
- Published in:
- Journal of Experimental Botany, 2023, v. 74, n. 8, p. 2754, doi. 10.1093/jxb/erad057
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- Article
Antimicrobial and anti-biofilm activity of Polygonum chinense L.aqueous extract against Staphylococcus aureus.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-26399-1
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- Article
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.
- Published in:
- 2019
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- Publication type:
- Case Study
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.
- Published in:
- Lipids in Health & Disease, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12944-018-0789-2
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- Publication type:
- Article
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1048
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- Publication type:
- Article
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
- Published in:
- Lipids in Health & Disease, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12944-020-01249-z
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- Publication type:
- Article