Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion> ?p ?o ?g. }
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- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion type Assertion NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_head.
- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion description "[We identified two unique ATP7A missense mutations (p.P1386S and p.T994I) in males with distal motor neuropathy in two families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_provenance.
- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion evidence source_evidence_literature NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_provenance.
- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion SIO_000772 20170900 NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_provenance.
- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion wasDerivedFrom befree-20140225 NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_provenance.
- NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_assertion wasGeneratedBy ECO_0000203 NP614927.RABmrRRqXOe1JvTG-N-54pAjiJ9vFKBHQ9K6fIXEOpBRc130_provenance.