Varaico: Literature-Extracted Genetic Variants

Gene:ARL3
Variant:p.C118Y
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ARL3

NM_004311.4:p.C118Y

Associated Papers

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M et al.

Ophthalmology, 2023

36423731 (PubMed )
Supplement: mmc6.pdf

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V et al.

Human Mutation, 2007

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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."