Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.Y430_R431Fs
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BLM

NM_000057.4:p.Y430_R431Fs

Associated Papers

Whole-Exome Sequencing Identifies Germline BLM Mutation in Ovarian Hepatoid Adenocarcinoma with Favorable Response to Niraparib and Anlotinib Combination Therapy-A Case Report and Literature Review.

Zhang X et al.

International Journal of Surgical Pathology, 2025

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

Zhao XX

Congenital Anomalies, 0

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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."