Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1427113.RAZFxP89JbEDX3KSzyIQiszOVlWdhYddPdwi34NIQynGI#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 24392928 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.