Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.D1010fs
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BLM

NM_000057.4:p.D1010fs

Associated Papers

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.

Bononi A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

33318203 (PubMed )
Supplement: pnas.2019652117.sapp.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

German J et al.

Human Mutation, 2007

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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."