Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.F229L
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RAD51C

NM_058216.3:p.F229L

Associated Papers

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36099300 (PubMed )
Supplement: pnas.2202727119.sapp.pdf

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.

Collopy LC et al.

Haematologica, 2014

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