Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.N39T
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ATP2A1

NM_004320.6:p.N39T

Associated Papers

Multiple effects of SERCA2b mutations associated with Darier's disease.

Ahn W et al.

The Journal of Biological Chemistry, 2003

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Ringpfeil F et al.

Experimental Dermatology, 2001

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

Jacobsen NJ et al.

Human Molecular Genetics, 1999

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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."