Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion> ?p ?o ?g. }
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- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion type Assertion NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_head.
- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion description "[Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_provenance.
- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion evidence source_evidence_literature NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_provenance.
- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion SIO_000772 21267004 NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_provenance.
- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion wasDerivedFrom befree-20140225 NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_provenance.
- NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_assertion wasGeneratedBy ECO_0000203 NP422816.RAVxykRnXwxdmShUeJvjrqTZVpgzKCW5VUFaUesfM5lGA130_provenance.