Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R234P
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NAGLU

NM_000263.4:p.R234P

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

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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."