Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.D2904N
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EYS

NM_001142800.2:p.D2904N

Associated Papers

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

36785559 (PubMed )
Supplement: mmc4.pdf
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