Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.P128L
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IDUA

NM_000203.5:p.P128L

Associated Papers

The natural history of neurocognition in MPS disorders: A review.

Shapiro EG et al.

Molecular Genetics and Metabolism, 2021

Analysis of Sanfilippo A gene mutations in a large pedigree.

Di Natale P et al.

Clinical Genetics, 2003

The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.

Kroepfl T et al.

Clinical Genetics, 2001

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P et al.

Human Mutation, 1998

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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."