Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.A79T
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IDS

NM_000202.8:p.A79T

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Gragnaniello V et al.

International Journal of Neonatal Screening, 2020

Newborn screening in mucopolysaccharidoses.

Donati MA et al.

Italian Journal of Pediatrics, 2018

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo M et al.

Italian Journal of Pediatrics, 2018

Newborn screening for mucopolysaccharidosis type II: Lessons learned.

Burton BK et al.

Molecular Genetics and Metabolism, 0

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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."