Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.W176*
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ARL6

NM_001278293.3:p.W176*

Associated Papers

Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.

Pincay J et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2024

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.

Mizumoto K et al.

Medicine, 2022

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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."