Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.Y736*
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BLM

NM_000057.4:p.Y736*

Associated Papers

The microtubule inhibitor eribulin demonstrates efficacy in platinum-resistant and refractory high-grade serous ovarian cancer patient-derived xenograft models.

Ho GY et al.

Therapeutic Advances in Medical Oncology, 2023

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Zeevi DA et al.

Molecular Genetics & Genomic Medicine, 2021

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Alzahrani FA et al.

Scientific Reports, 2020

32704157 (PubMed )
Supplement: 41598_2020_69033_MOESM4_ESM.xlsx › cds_nonsense_SNP

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

Subramanian DN et al.

Nature Communications, 2020

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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."