Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.K324_V325Splc
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IDUA

NM_000203.5:p.K324_V325Splc

Associated Papers

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Voskoboeva EY et al.

Frontiers in Molecular Biosciences, 2021

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L et al.

Orphanet Journal of Rare Diseases, 2017

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F et al.

Human Mutation, 2011

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