Varaico: Literature-Extracted Genetic Variants

Gene:GRK1
Variant:p.E48_S49delFs
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GRK1

NM_002929.3:p.E48_S49delFs

Associated Papers

Advancements and future directions in Oguchi disease research.

Fan F et al.

International Ophthalmology, 2025

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

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

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

New variants and in silico analyses in GRK1 associated Oguchi disease.

Poulter JA et al.

Human Mutation, 2021

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