Varaico: Literature-Extracted Genetic Variants

Gene:FANCC
Variant:p.W22*
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FANCC

NM_000136.3:p.W22*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table3.XLSX › Sheet1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › FANCC

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Pilonetto DV et al.

Molecular Genetics & Genomic Medicine, 2017

Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.

Barber LM et al.

British Journal of Haematology, 2003

Sequence variation in the Fanconi anemia gene FAA.

Levran O et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

Novel mutations and polymorphisms in the Fanconi anemia group C gene.

Gibson RA et al.

Human Mutation, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."