Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.M780V
Back to variants list

SI

NM_001041.4:p.M780V

Associated Papers

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Niño MY et al.

Jimd Reports, 2013

Glycogenosis type II (acid maltase deficiency).

Reuser AJ et al.

Muscle & Nerve. Supplement, 1995

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."