Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion> ?p ?o ?g. }
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- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion type Assertion NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_head.
- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion description "[We investigated a group of 30 female patients with a clinically heterogeneous phenotype ranging from nonspecific intellectual disability to a severe neonatal encephalopathy and identified two heterozygous CDKL5 missense mutations, the previously reported p.Val999Met and the novel mutation p.Pro944Thr.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_provenance.
- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion evidence source_evidence_literature NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_provenance.
- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion SIO_000772 23756444 NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_provenance.
- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion wasDerivedFrom befree-20150227 NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_provenance.
- NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_assertion wasGeneratedBy ECO_0000203 NP719354.RAcpVhNCQSLB5gmV0jnXV6b5HyE3hs2ZBh42so9RY_bNQ130_provenance.