Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion> ?p ?o ?g. }
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- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion type Assertion NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_head.
- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion wasGeneratedBy ECO_0000203 NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_provenance.
- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion wasDerivedFrom befree-2016 NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_provenance.
- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion SIO_000772 24392928 NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_provenance.
- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_assertion evidence source_evidence_literature NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_provenance.
- NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_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." NP1142277.RAprCbJ-yFf1wzYeaQLwfWcbnGDHMCqRnsv01eBFU5CP0130_provenance.