Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion> ?p ?o ?g. }
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- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion type Assertion NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_head.
- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion description "[Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine array-CGH evaluation of sporadic intellectual deficiency (ID) cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_provenance.
- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion evidence source_evidence_literature NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_provenance.
- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion SIO_000772 23615299 NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_provenance.
- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion wasDerivedFrom befree-2016 NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_provenance.
- NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_assertion wasGeneratedBy ECO_0000203 NP1072019.RAxDXsbyU2OGH_U14r0-4LuU6WYBHn3Y4fhJ-OWlCQvTc130_provenance.