Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E83K
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AIPL1

NM_014336.5:p.E83K

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S et al.

Plos One, 2015

26147992 (PubMed )
Supplement: pone.0131679.s001.xls › Sheet1
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