Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion> ?p ?o ?g. }
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- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion type Assertion NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_head.
- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion description "[This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_provenance.
- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion evidence source_evidence_literature NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_provenance.
- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion SIO_000772 26323392 NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_provenance.
- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion wasDerivedFrom befree-2016 NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_provenance.
- NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_assertion wasGeneratedBy ECO_0000203 NP1293487.RAgtxcjQABevFlyReLPlNhCPsAMucr3q1Gqf4U1DvFheU130_provenance.