Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R837H
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GAA

NM_000152.5:p.R837H

Associated Papers

Adult Pompe disease: Analysis of 13 patients.

Martín-Jiménez P et al.

Medicina Clinica, 2025

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Figueroa-Bonaparte S et al.

Scientific Reports, 2018

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Figueroa-Bonaparte S et al.

Plos One, 2016

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Griffiths S et al.

Familial Cancer, 2007

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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."