Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.G703D
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CDHR1

NM_033100.4:p.G703D

Associated Papers

Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function.

Farag S et al.

Ophthalmic Genetics, 2024

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Malechka VV et al.

Genes, 2022

35627310 (PubMed )
Supplement: genes-13-00925-s001.zip › genes-1697188-supplementary.pdf

CDHR1 mutations in retinal dystrophies.

Stingl K et al.

Scientific Reports, 2017

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