Varaico: Literature-Extracted Genetic Variants

Gene:RMI1
Variant:p.K419fs
Back to variants list

RMI1

NM_001358291.2:p.K419fs

Associated Papers

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Gönenc II et al.

Clinical Genetics, 2022

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA et al.

American Journal of Human Genetics, 2018

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."