Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.E527_V528Splc
Back to variants list

FANCM

NM_020937.4:p.E527_V528Splc

Associated Papers

PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.

Miao R et al.

Cancers, 2024

39456541 (PubMed )
Supplement: cancers-16-03447-s001.zip › cancers-3211805-supplementary.pdf

Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.

Ng JY et al.

British Journal of Haematology, 2023

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.

Neidhardt G et al.

Jama Oncology, 2017

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene.

Dicks E et al.

Oncotarget, 2017

Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.

Figlioli G et al.

Mutation Research. Reviews in Mutation Research, 0

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."