Varaico: Literature-Extracted Genetic Variants

Gene:CFAP410
Variant:p.R108H
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CFAP410

NM_004928.3:p.R108H

Associated Papers

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Schmidt RE et al.

Npj Genomic Medicine, 2025

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
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