Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.C318Y
Back to variants list

ATP2A2

NM_170665.4:p.C318Y

Associated Papers

Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.

Gordon-Smith K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Novel mutations in Darier disease and association to self-reported disease severity.

Leong IUS et al.

Plos One, 2017

Novel and recurrent ATP2A2 mutations in Japanese patients with Darier's disease.

Noda K et al.

Nagoya Journal of Medical Science, 2016

Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.

Takeichi T et al.

Acta Dermato-venereologica, 2016

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."