Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion> ?p ?o ?g. }
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- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion type Assertion NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_head.
- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion description "[Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_provenance.
- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion evidence source_evidence_literature NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_provenance.
- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion SIO_000772 22236771 NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_provenance.
- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion wasDerivedFrom befree-20140225 NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_provenance.
- NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_assertion wasGeneratedBy ECO_0000203 NP163749.RABHz729YwMyrwrdz3QqXaiM8R9bQfe-tREMkAEDCy_aY130_provenance.