Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Y843D
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FANCA

NM_000135.4:p.Y843D

Associated Papers

Tracking Cytopenias in FANCA-deficient Fanconi Anemia.

Maxwell RR et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445598 (PubMed )
Supplement: media-1.pdf

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.

Chan SH et al.

Jnci Cancer Spectrum, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N et al.

Human Mutation, 2008

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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."