Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.W5*
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FANCA

NM_000135.4:p.W5*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.

Joshi G et al.

Journal of Medical Genetics, 2023

36894310 (PubMed )
Supplement: jmg-2022-108714supp003.pdf

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

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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."