Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.Q45Splc
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PHYH

NM_006214.4:p.Q45Splc

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

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

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Jansen GA et al.

Human Mutation, 2004

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA et al.

Human Molecular Genetics, 2000

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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."