Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R83C
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IDUA

NM_000203.5:p.R83C

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

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L et al.

Orphanet Journal of Rare Diseases, 2017

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_10.xlsx › CCF_DP_clustering
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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."