Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.K235_V236Splc
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RAD51C

NM_058216.3:p.K235_V236Splc

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

Jønson L et al.

Breast Cancer Research and Treatment, 2016

RAD51C germline mutations in Chinese women with familial breast cancer.

Pang Z et al.

Breast Cancer Research and Treatment, 2011

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.

Clague J et al.

Plos One, 2011

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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."