Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.Y430*
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BLM

NM_000057.4:p.Y430*

Associated Papers

Adult epithelioid glioblastoma exhibits an extremely poor prognosis and high frequency of SWI/SNF complex mutation: Insights from a retrospective study.

Xi S et al.

International Journal of Cancer, 2024

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."