Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.E647K
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LONP1

NM_004793.4:p.E647K

Associated Papers

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Young RE et al.

Clinical Genetics, 2026

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Rodríguez-Solana P et al.

International Journal of Molecular Sciences, 2023

Genome sequencing in congenital cataracts improves diagnostic yield.

Ma A et al.

Human Mutation, 2021

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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."