Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.D463N
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LONP1

NM_004793.4:p.D463N

Associated Papers

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Young RE et al.

Clinical Genetics, 2026

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Gauquelin L et al.

Movement Disorders Clinical Practice, 2020

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy.

Hannah-Shmouni F et al.

Frontiers in Neurology, 2019

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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."