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- source_evidence_literature type ECO_0000212 NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_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.
- NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_assertion evidence source_evidence_literature NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_assertion SIO_000772 24580998 NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_assertion wasDerivedFrom befree-20150227 NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_assertion wasGeneratedBy ECO_0000203 NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP654241.RA8BL9xHgueI3EmENGSd4ahUp-hzrutLD0A3-KHCZSMwc130_provenance.