Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.R538C
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LONP1

NM_004793.4:p.R538C

Associated Papers

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Young RE et al.

Clinical Genetics, 2026

Analysis of rare genetic variants in All of Us cohort patients with common variable immunodeficiency.

von Beck T et al.

Frontiers in Genetics, 2024

Clinical features of LONP1-related infantile cataract.

Khan AO et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

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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."