Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.K198delFs
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FANCL

NM_018062.4:p.K198delFs

Associated Papers

An acquired BMF with FANCL gene heterozygous mutation: Case report.

Zhang N et al.

Medicine, 2023

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.

Donovan FX et al.

Human Mutation, 2020

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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."