Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion> ?p ?o ?g. }
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- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion type Assertion NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_head.
- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion description "[In humans, mutations in SERCA1 (ATP2A1) cause Brody disease, an impairment of skeletal muscle relaxation; loss of one copy of the SERCA2 (ATP2A2) gene causes Darier disease, a skin disorder; and loss of one copy of the SPCA1 (ATP2C1) gene causes Hailey-Hailey disease, another skin disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_provenance.
- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion evidence source_evidence_literature NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_provenance.
- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion SIO_000772 12763865 NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_provenance.
- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion wasDerivedFrom befree-20150227 NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_provenance.
- NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_assertion wasGeneratedBy ECO_0000203 NP256357.RAF_y-Ku0Ton8ixHJ1Cr_OiQkUQbSu-w4WwoZ8RypH5l8130_provenance.