Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.K522R
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FANCA

NM_000135.4:p.K522R

Associated Papers

PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia.

Sheth AS et al.

Cancer Research Communications, 2025

40111122 (PubMed )
Supplement: crc-24-0260_supplementary_data_suppsd4.xlsx › FA_Mutated

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B et al.

Haematologica, 2023

35417938 (PubMed )
Supplement: 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx › Table_S2

Fanconi Anemia: A Syndrome of Anemia and Skeletal Malformations Progressing to a Gene Network Involved in Genomic Stability and Malignant Disease.

Poot M

Molecular Syndromology, 2020

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble DC et al.

Human Mutation, 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."