Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.Y736insFs
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BLM

NM_000057.4:p.Y736insFs

Associated Papers

Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.

Subramanian DN et al.

Npj Genomic Medicine, 2025

39794353 (PubMed )
Supplement: 41525_2024_447_MOESM1_ESM.pdf

Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.

Díaz-Velásquez CE et al.

Frontiers in Genetics, 2023

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S2

Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.

Moran O et al.

Breast Cancer Research and Treatment, 2017

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