Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.I348T
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ATP2A1

NM_004320.6:p.I348T

Associated Papers

Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes.

Wang Y et al.

Journal of Cell Science, 2011

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

Ringpfeil F et al.

Experimental Dermatology, 2001

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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."