Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.K378_N379Splc
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MCOLN1

NM_020533.3:p.K378_N379Splc

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

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.

Misko AL et al.

Neurology. Genetics, 2022

White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.

Zerem A et al.

Metabolic Brain Disease, 2021

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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."