Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion> ?p ?o ?g. }
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- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion type Assertion NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_head.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion description "[Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion evidence source_evidence_literature NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion SIO_000772 12913070 NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion wasDerivedFrom befree-20140225 NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.
- NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_assertion wasGeneratedBy ECO_0000203 NP636173.RA6xszQWaViFvVGk8LaUbRH01UIP5Yu92OWcYB0uz5PQM130_provenance.