Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.H572_N573del2
Back to variants list

BLM

NM_000057.4:p.H572_N573del2

Associated Papers

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

Zhao XX

Congenital Anomalies, 0

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."