Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.N64I
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PHYH

NM_006214.4:p.N64I

Associated Papers

Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.

Gregory-Evans CY et al.

Ophthalmic Genetics, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."