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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A2

Variant:p.C349delFs

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ATP2A2

NM_170665.4:p.C349delFs

hg38:chr12:110327966 CT>C

Associated Papers

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.

Dobson-Stone C et al.

The Journal of Investigative Dermatology, 2002

11841554 (PubMed )

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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."