Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP654418.RAZhJcgDR48Tz3HvzhtOVa3_OSRiwZ6ZmOXonMn4GPz9Y130_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." NP654418.RAZhJcgDR48Tz3HvzhtOVa3_OSRiwZ6ZmOXonMn4GPz9Y130_provenance.
- 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." provenance.
- NP653964.RA-Z_Wi0D27EdNYigz86hg3LBtmaVohuCCA4kHmftvft4130_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." NP653964.RA-Z_Wi0D27EdNYigz86hg3LBtmaVohuCCA4kHmftvft4130_provenance.
- NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_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." NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.