Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.S849fs
Back to variants list

FANCA

NM_000135.4:p.S849fs

Associated Papers

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts.

Park SY et al.

Annals of Laboratory Medicine, 2023

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Shin HC et al.

Cancer Research and Treatment, 2020

FANCA and FANCG are the major Fanconi anemia genes in the Korean population.

Park J et al.

Clinical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."