Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.Y246S
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AIPL1

NM_014336.5:p.Y246S

Associated Papers

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Matczyńska E et al.

Genes, 2024

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

Tracewska AM et al.

Molecular Vision, 2021

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Taylor RL et al.

Ophthalmology, 2019

30905644 (PubMed )
Supplement: mmc6.pdf
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