Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.S35delFs
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PHYH

NM_006214.4:p.S35delFs

Associated Papers

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.

Hunt C et al.

Investigative Ophthalmology & Visual Science, 2025

40923693 (PubMed )
Supplement: iovs-66-12-22_s002.xlsx › ST7_Systemic_Disease

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2024

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