Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.H53Q
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CDHR1

NM_033100.4:p.H53Q

Associated Papers

Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.

Murphy WA et al.

Circulation. Genomic and Precision Medicine, 2022

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

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.

Marcos AT et al.

Molecular Genetics & Genomic Medicine, 2020

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."