Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.L611S
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GALC

NM_000153.4:p.L611S

Associated Papers

Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.

Bao J et al.

Biomedicines, 2025

40427062 (PubMed )
Supplement: biomedicines-13-01235-s001.zip › Supplement_Table_S8.xlsx › PART4

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.

Zhang C et al.

Journal of Molecular Neuroscience : Mn, 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
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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."