Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.P133R
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CDHR1

NM_033100.4:p.P133R

Associated Papers

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Malechka VV et al.

Genes, 2022

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A et al.

Plos One, 2016

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

28885867 (PubMed )
Supplement: supplement_1.docx
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