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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapies.
- Published in:
- Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-021-00418-9
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- Publication type:
- Article
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapies.
- Published in:
- Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-021-00418-9
- By:
- Publication type:
- Article
Antibody response to polyomavirus primary infection: high seroprevalence of Merkel cell polyomavirus and lymphoid tissue involvement.
- Published in:
- Journal of NeuroVirology, 2018, v. 24, n. 3, p. 314, doi. 10.1007/s13365-017-0612-2
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- Publication type:
- Article
Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4024, doi. 10.3390/ijms24044024
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- Article
Monitoring Somatic Genetic Alterations in Circulating Cell-Free DNA/RNA of Patients with "Oncogene-Addicted" Advanced Lung Adenocarcinoma: A Real-World Clinical Study.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8546, doi. 10.3390/ijms23158546
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- Article
MBL2 polymorphisms in women with atypical squamous cells of undetermined significance.
- Published in:
- Journal of Medical Virology, 2015, v. 87, n. 5, p. 851, doi. 10.1002/jmv.24080
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- Publication type:
- Article
Beta defensin-1 gene polymorphisms and susceptibility to Atypical Squamous Cells of Undetermined Significance lesions in Italian gynecological patients.
- Published in:
- Journal of Medical Virology, 2014, v. 86, n. 12, p. 1999, doi. 10.1002/jmv.23878
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- Publication type:
- Article
Chromosome 18q allelic loss and prognosis in stage II and III colon cancer.
- Published in:
- International Journal of Cancer, 1998, v. 79, n. 4, p. 390, doi. 10.1002/(SICI)1097-0215(19980821)79:4<390::AID-IJC14>3.0.CO;2-9
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- Publication type:
- Article
MicroRNA profiling for the identification of cancers with unknown primary tissue-of-origin.
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- Journal of Pathology, 2011, v. 225, n. 1, p. 43, doi. 10.1002/path.2915
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- Publication type:
- Article
Immunohistochemical pattern of MLH1/MSH2 expression is related to clinical and pathological features in colorectal adenocarcinomas with microsatellite instability.
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- 2002
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- Publication type:
- journal article
Prognostic significance of DNA ploidy in patients with stage II and stage III colon carcinoma: a prospective flow cytometric study.
- Published in:
- 1998
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- Publication type:
- journal article
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00974
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- Publication type:
- Article
Sporadic colorectal adenocarcinomas with high-frequency microsatellite instability.
- Published in:
- 2000
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- Publication type:
- journal article
Disease‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 48, doi. 10.1002/humu.23680
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- Publication type:
- Article
Cis -Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 934, doi. 10.3390/genes12060934
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- Publication type:
- Article
NLRP1 polymorphisms in patients with asbestos-associated mesothelioma.
- Published in:
- Infectious Agents & Cancer, 2012, v. 7, n. 1, p. 25, doi. 10.1186/1750-9378-7-25
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- Publication type:
- Article