Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.T39N
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AIPL1

NM_014336.5:p.T39N

Associated Papers

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Galieva A et al.

International Journal of Molecular Sciences, 2025

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Sacristan-Reviriego A et al.

Scientific Reports, 2020

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

Ray K et al.

Human Genetics, 2005

Gene symbol: JAG1. Disease: Alagille syndrome.

Glaeser C

Human Genetics, 2005

Gene symbol: AIPL1. Disease: LCA4.

Khaliq S et al.

Human Genetics, 2005

Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

Ray K et al.

Human Genetics, 2005

Mutation screening of Pakistani families with congenital eye disorders.

Khaliq S et al.

Experimental Eye Research, 2003

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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."