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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH2

Variant:p.Y234H

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PRPH2

NM_000322.5:p.Y234H

hg38:chr6:42704493 A>G

Associated Papers

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Cascella R et al.

Biomedicines, 2025

40722607 (PubMed )

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