Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion> ?p ?o ?g. }
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- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion type Assertion NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_head.
- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion wasGeneratedBy ECO_0000203 NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_provenance.
- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion wasDerivedFrom befree-20140225 NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_provenance.
- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion SIO_000772 22678594 NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_provenance.
- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion evidence source_evidence_literature NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_provenance.
- NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_assertion description "[By evaluating clinical features of patients with a proven TCF4 mutation with those of patients without, we noticed that, in addition to the typical facial gestalt, the PTHS phenotype results from the various combination of the following characteristics: ID with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing abnormalities, motor incoordination, ocular anomalies, constipation, seizures, typical behavior, and subtle brain abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324364.RAjyNMtt56LLlBhpXuuRnZZWlDl3vVGBKa6y4anfxu3Dg130_provenance.