Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion> ?p ?o ?g. }
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- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion type Assertion NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_head.
- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion description "[Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_provenance.
- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion evidence source_evidence_literature NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_provenance.
- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion SIO_000772 20837309 NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_provenance.
- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion wasDerivedFrom befree-20150227 NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_provenance.
- NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_assertion wasGeneratedBy ECO_0000203 NP537887.RAK5huFoYzqNY1fF-lR2qCDiuhuXz9922htCxlNOsm_Ns130_provenance.