Varaico: Literature-Extracted Genetic Variants

Gene:ARL3
Variant:p.R149H
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ARL3

NM_004311.4:p.R149H

Associated Papers

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.

Holtes LK et al.

Progress in Retinal and Eye Research, 2025

Mitochondrial functional impairment in ARL3-mutation related rod-cone dystrophy.

Zhang X et al.

Faseb Bioadvances, 2024

Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3T31A and ARL3T31A/C118F mutations.

Zhang X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.

Travis AM et al.

Advances in Experimental Medicine and Biology, 2023

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.

Powell L et al.

Small Gtpases, 2021

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene.

Fu L et al.

Frontiers in Cell and Developmental Biology, 2021

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Sheikh SA et al.

Investigative Ophthalmology & Visual Science, 2019

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Alkanderi S et al.

American Journal of Human Genetics, 2018

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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."