Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion> ?p ?o ?g. }
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- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion type Assertion NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_head.
- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_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." NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_provenance.
- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion evidence source_evidence_literature NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_provenance.
- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion SIO_000772 12763865 NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_provenance.
- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion wasDerivedFrom befree-20150227 NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_provenance.
- NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_assertion wasGeneratedBy ECO_0000203 NP256403.RAci9dIBS7g2pPGJUhp1FvsL8KWj-uMrwQAuTg4zntHlw130_provenance.