Varaico: Literature-Extracted Genetic Variants

Gene:SARS1
Variant:p.R213H
Back to variants list

SARS1

NM_006513.4:p.R213H

Associated Papers

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

Ravel JM et al.

Human Mutation, 2021

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."