Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.G78D
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IDUA

NM_000203.5:p.G78D

Associated Papers

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Peck DS et al.

International Journal of Neonatal Screening, 2020

33073008 (PubMed )
Supplement: IJNS-06-00010-s001.zip › IJNS-702473-supplementary.xlsx › SUPP_TABLE

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L et al.

Orphanet Journal of Rare Diseases, 2017

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