Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.R447C
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IDUA

NM_000203.5:p.R447C

Associated Papers

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L et al.

Orphanet Journal of Rare Diseases, 2017

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