Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.W464*
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LONP1

NM_004793.4:p.W464*

Associated Papers

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Young RE et al.

Clinical Genetics, 2026

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations.

Tang Y et al.

Frontiers in Genetics, 2022

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

Dikoglu E et al.

American Journal of Medical Genetics. Part A, 2015

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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."