Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion> ?p ?o ?g. }
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- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion type Assertion NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_head.
- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_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." NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_provenance.
- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion evidence source_evidence_literature NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_provenance.
- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion SIO_000772 12763865 NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_provenance.
- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion wasDerivedFrom befree-2016 NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_provenance.
- NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_assertion wasGeneratedBy ECO_0000203 NP395382.RAINYjWBO76xyauanYJ5vi3n0TuL4FbLhDRdySvOT9A_A130_provenance.