Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.R419P
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MCOLN1

NM_020533.3:p.R419P

Associated Papers

A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.

Ghasemi A et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Jezela-Stanek A et al.

International Journal of Molecular Sciences, 2020

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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."