Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion> ?p ?o ?g. }
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- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion type Assertion NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_head.
- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion description "[Mutations in the lamin A/C gene should be sought in any infant with dystrophic features and normal tissue immunochemical studies; especially in the presence of moderately elevated serum creatine kinase, predominant axial and humeroperoneal weakness, spine rigidity, and joint contractures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_provenance.
- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion evidence source_evidence_literature NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_provenance.
- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion SIO_000772 20837309 NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_provenance.
- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion wasDerivedFrom befree-20140225 NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_provenance.
- NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_assertion wasGeneratedBy ECO_0000203 NP559182.RAzEeiaCLd2J56v-nMFMJBxUgFLbEuGD1j7Pd-nkAlU4c130_provenance.