Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.Q407R
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IDUA

NM_000203.5:p.Q407R

Associated Papers

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."