Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.R12C
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GALC

NM_000153.4:p.R12C

Associated Papers

Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study.

Chen HY et al.

Journal of Medical Genetics, 2024

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."