Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.P364L
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IDS

NM_000202.8:p.P364L

Associated Papers

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.

Chuang CK et al.

Diagnostics (basel, Switzerland), 2021

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Chan MJ et al.

The Journal of Pediatrics, 2019

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

Chuang CK et al.

Orphanet Journal of Rare Diseases, 2018

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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."