Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.C1063S
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BLM

NM_000057.4:p.C1063S

Associated Papers

Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicase.

Guo RB et al.

Nucleic Acids Research, 2005

Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.

Bahr A et al.

Oncogene, 1998

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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."