Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion> ?p ?o ?g. }
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- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion type Assertion NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_head.
- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion description "[Recently, several point mutations of the human gas3/PMP22 gene have been associated with Charcot-Marie-Tooth type 1A (CMT1A), a common hereditary demyelinating neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_provenance.
- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion evidence source_evidence_literature NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_provenance.
- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion SIO_000772 7649472 NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_provenance.
- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion wasDerivedFrom befree-2016 NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_provenance.
- NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_assertion wasGeneratedBy ECO_0000203 NP1316486.RAKhxsNlHkMiWcXu3lwMabvmEixFOWOjrXCpTMWgcUdY0130_provenance.