Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion> ?p ?o ?g. }
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- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion type Assertion NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_head.
- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion wasGeneratedBy ECO_0000203 NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_provenance.
- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion wasDerivedFrom befree-2016 NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_provenance.
- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion SIO_000772 18554282 NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_provenance.
- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion evidence source_evidence_literature NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_provenance.
- NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_assertion description "[Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676676.RAzvSZKEo1UGvmCWy3DqUFuj_dQFD8BQ5py31-_6mP49w130_provenance.