Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.R621C
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GALC

NM_000153.4:p.R621C

Associated Papers

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Chang S et al.

Jama Network Open, 2024

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

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."