Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.S842delFs
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FANCA

NM_000135.4:p.S842delFs

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

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

Sequence variation in the Fanconi anemia gene FAA.

Levran O et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."