Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.V183M
Back to variants list

CDHR1

NM_033100.4:p.V183M

Associated Papers

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

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

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."