Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L365V
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IDUA

NM_000203.5:p.L365V

Associated Papers

Proteus syndrome with progressive paralysis of the unilateral lower limb: A rare case report and literature review.

Cai F et al.

Heliyon, 2024

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Chang S et al.

Jama Network Open, 2024

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Chuang CK et al.

International Journal of Molecular Sciences, 2022

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

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Genomic Profiling of Biliary Tract Cancer Cell Lines Reveals Molecular Subtypes and Actionable Drug Targets.

Lau DK et al.

Iscience, 2019

31731200 (PubMed )
Supplement: mmc2.xlsx › Sequencing.data
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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."