Varaico: Literature-Extracted Genetic Variants

Gene:FANCC
Variant:p.G139E
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FANCC

NM_000136.3:p.G139E

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.

Ben Kridis-Rejeb W et al.

Molecular Biology Reports, 2020

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

Del Valle J et al.

Cancers, 2020

32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Germ line Fanconi anemia complementation group C mutations and pancreatic cancer.

Couch FJ et al.

Cancer Research, 2005

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

Fanconi anaemia research: current status and prospects.

Joenje H et al.

European Journal of Cancer (oxford, England : 1990), 1995

Mutation analysis of the Fanconi anemia gene FACC.

Verlander PC et al.

American Journal of Human Genetics, 1994

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

Whitney MA et al.

Nature Genetics, 1993

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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."