Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion> ?p ?o ?g. }
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- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion type Assertion NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_head.
- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion description "[The identification of a novel frameshift variant of PTEN in a patient with extreme macrocephaly, autism, intellectual disability and seizures, confirms this gene as a major candidate in the ASD-macrocephaly endophenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_provenance.
- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion evidence source_evidence_literature NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_provenance.
- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion SIO_000772 24580998 NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_provenance.
- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion wasDerivedFrom befree-2016 NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_provenance.
- NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_assertion wasGeneratedBy ECO_0000203 NP1158938.RAQFUF5fQhsLDCSbRepg19dPVHAS7ZhTnSSwgbgRkGI2k130_provenance.