Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.N469D
Back to variants list

MCOLN1

NM_020533.3:p.N469D

Associated Papers

Exploring human plasma proteomic variations in mucolipidosis type IV.

Tobin BR et al.

Molecular Therapy. Methods & Clinical Development, 2025

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

Misko AL et al.

Neurology. Genetics, 2022

Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.

Misko AL et al.

Cells, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."