Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion> ?p ?o ?g. }
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- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion type Assertion NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_head.
- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion description "[Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_provenance.
- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion evidence source_evidence_literature NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_provenance.
- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion SIO_000772 21176162 NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_provenance.
- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion wasDerivedFrom befree-20140225 NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_provenance.
- NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_assertion wasGeneratedBy ECO_0000203 NP723137.RACw0MZ_4JKgkAS2tBHXXt0lhC3QpX1bu1TCBQjnMPAgQ130_provenance.