Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.I468V
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MCOLN1

NM_020533.3:p.I468V

Associated Papers

Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.

Rue BE et al.

The Journal of Biological Chemistry, 2026

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE et al.

Human Molecular Genetics, 2001

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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."