Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Q382*
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FANCA

NM_000135.4:p.Q382*

Associated Papers

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

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

Severe telomere shortening in Fanconi anemia complementation group L.

Shah A et al.

Molecular Biology Reports, 2021

Functional analysis of Fanconi anemia mutations in China.

Li N et al.

Experimental Hematology, 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."