Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.C1055G
Back to variants list

BLM

NM_000057.4:p.C1055G

Associated Papers

Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.

Cunniff C et al.

Molecular Syndromology, 2017

Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Shastri VM et al.

Molecular Genetics & Genomic Medicine, 2016

Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.

Swan MK et al.

Acta Crystallographica. Section D, Biological Crystallography, 2014

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

German J et al.

Human Mutation, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."