Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.C82W
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GAA

NM_000152.5:p.C82W

Associated Papers

First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.

Fillman T et al.

The Journal of Pediatrics, 2023

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

Zhang T et al.

Molecular Genetics and Metabolism, 2022

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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."