Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.I261T
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GALNS

NM_000512.5:p.I261T

Associated Papers

Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.

Lin HY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

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
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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."