Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.V229fs
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PHYH

NM_006214.4:p.V229fs

Associated Papers

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

de Castro-Miró M et al.

Plos One, 2016

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