Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.H308H
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GAA

NM_000152.5:p.H308H

Associated Papers

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M et al.

Genome Biology, 2023

37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM3_ESM.xlsx › Table_S3

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Kann M et al.

Annals of Neurology, 2002

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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."