Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.E849_K850del1
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CDHR1

NM_033100.4:p.E849_K850del1

Associated Papers

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Griffith J et al.

Genes, 2022

36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )
Supplement: pgen.1010129.s002.xlsx › Sheet1

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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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."