Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.H206fs
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CDHR1

NM_033100.4:p.H206fs

Associated Papers

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant.

Durlu YK et al.

American Journal of Ophthalmology Case Reports, 2024

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.

Basdemirci M et al.

Molecular Syndromology, 2024

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