Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.M1V
Back to variants list

SI

NM_001041.4:p.M1V

Associated Papers

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Omar A et al.

The Malaysian Journal of Pathology, 2025

Letter to the Editors: Concerning "Divergent clinical outcomes of alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi M et al.

Ortolano R et al.

Molecular Genetics and Metabolism Reports, 2017

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."