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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17597066 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Loss of one copy of the human ATP2C1 gene, encoding SPCA1 (secretory pathway Ca(2+)-ATPase isoform 1), causes Hailey-Hailey disease, a skin disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.