Varaico: Literature-Extracted Genetic Variants

Gene:CDH22
Variant:p.R533H
Back to variants list

CDH22

NM_021248.3:p.R533H

Associated Papers

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC et al.

Molecular Genetics & Genomic Medicine, 2017

28717666 (PubMed )
Supplement: MGG3-5-418-s001.xlsx › SuppTable_3_

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

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."