Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.P497S
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FANCA

NM_000135.4:p.P497S

Associated Papers

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble DC et al.

Human Mutation, 2018

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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."