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

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

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

Pilonetto DV et al.

Molecular Genetics & Genomic Medicine, 2017

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D et al.

Haematologica, 2014

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

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."