Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.G488fs
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CDHR1

NM_033100.4:p.G488fs

Associated Papers

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.

Malechka VV et al.

Genes, 2022

Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Jauregui R et al.

Scientific Reports, 2019

31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.

Haque MN et al.

Human Genome Variation, 2019

30992995 (PubMed )
Supplement: 41439_2019_48_MOESM3_ESM.pdf

Clinical characteristics of early retinal disease due to CDHR1 mutation.

Ba-Abbad R et al.

Molecular Vision, 2013

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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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."