Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion> ?p ?o ?g. }
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- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion type Assertion NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_head.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion description "[The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion evidence source_evidence_literature NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion SIO_000772 25720167 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion wasDerivedFrom befree-2016 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.
- NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_assertion wasGeneratedBy ECO_0000203 NP1266483.RAs1Tf7rRPrsQRVKTTETxv2hkp5bjCZcNz-HaHPlThc9k130_provenance.