Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion> ?p ?o ?g. }
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- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion type Assertion NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_head.
- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion description "[A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance.
- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion evidence source_evidence_literature NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance.
- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion SIO_000772 21901111 NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance.
- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion wasDerivedFrom befree-20140225 NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance.
- NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_assertion wasGeneratedBy ECO_0000203 NP545115.RASmXtn9l92KTXtdcAVQGeQ0IPyj8T3Tw5XW1P9Oq0D8E130_provenance.