Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.E580A
Back to variants list

DYNC1H1

NM_001376.5:p.E580A

Associated Papers

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.

Mei Y et al.

Bmc Medical Genomics, 2023

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."