Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.G843R
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EYS

NM_001142800.2:p.G843R

Associated Papers

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

Schlottmann PG et al.

Npj Genomic Medicine, 2023

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Reurink J et al.

Hgg Advances, 2023

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