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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLMH

Variant:p.E455Q

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BLMH

NM_000386.4:p.E455Q

hg38:chr17:30249022 C>G

Associated Papers

The Structure-Function Relationship of Human Bleomycin Hydrolase: Mutation of a Cysteine Protease into a Serine Protease.

Zheng YZ et al.

Chembiochem : a European Journal of Chemical Biology, 2022

35467071 (PubMed )

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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."