Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.R80W
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AIPL1

NM_014336.5:p.R80W

Associated Papers

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

Galieva A et al.

International Journal of Molecular Sciences, 2025

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Zobor D et al.

International Journal of Molecular Sciences, 2023

37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf
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