Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.T105I
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RPE65

NM_000329.3:p.T105I

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.

Kocaaga A et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J et al.

Peerj, 2023

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