Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_assertion wasGeneratedBy ECO_0000203 NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_assertion wasDerivedFrom befree-20150227 NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_assertion SIO_000772 24392928 NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_assertion evidence source_evidence_literature NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.
- NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_assertion description "[Two novel heterozygous mutations were detected: a heterozygous mutation in exon 4 of the TUBA1A gene (c.1160C>T) in a 5-year-old female with microcephaly, severe intellectual disability, and absence of language, and a c.1080 _1084del CCTGAinsACATCTTC in exon 4 of the TUBB2B gene in a 31-year-old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP986892.RATc45wNrVuXTjDZ1QHk7ydgCowx5C55RxHAjpOiyktiY130_provenance.