Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion> ?p ?o ?g. }
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- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion type Assertion NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_head.
- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion wasGeneratedBy ECO_0000203 NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_provenance.
- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion wasDerivedFrom befree-2016 NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_provenance.
- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion SIO_000772 23446178 NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_provenance.
- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion evidence source_evidence_literature NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_provenance.
- NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_assertion description "[A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1056448.RAOEbxgp8NSaTgigcXdooNQfdofyeWZQfawWzGNMjqlPo130_provenance.