Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.G51Splc
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CDHR1

NM_033100.4:p.G51Splc

Associated Papers

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

Farag S et al.

Ophthalmic Genetics, 2024

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

Ba-Abbad R et al.

Eye (london, England), 2021

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Bessette AP et al.

Ophthalmic Genetics, 0

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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."