Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.F1263S
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FANCA

NM_000135.4:p.F1263S

Associated Papers

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

Joshi G et al.

Journal of Medical Genetics, 2023

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

George M et al.

Human Mutation, 2021

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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."