Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L72R
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IDUA

NM_000203.5:p.L72R

Associated Papers

Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux-Lamy Syndrome.

Pereira AF et al.

Cornea, 2026

[Genetic aspects of mucopolysaccharidoses].

Lacombe D et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014

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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."