Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.L90fs
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FANCL

NM_018062.4:p.L90fs

Associated Papers

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

Zhang N et al.

Medicine, 2023

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Sy MR et al.

American Journal of Medical Genetics. Part A, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Vetro A et al.

Human Mutation, 2015

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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."