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

Roles of LonP1 in Oral-Maxillofacial Developmental Defects and Tumors: A Novel Insight.

Ma H et al.

International Journal of Molecular Sciences, 2022

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."