Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion> ?p ?o ?g. }
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- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion type Assertion NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_head.
- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion description "[Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia, which was refractory to granulocyte CSF, from defective platelet aggregation and myelofibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_provenance.
- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion evidence source_evidence_literature NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_provenance.
- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion SIO_000772 23599270 NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_provenance.
- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion wasDerivedFrom befree-20150227 NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_provenance.
- NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_assertion wasGeneratedBy ECO_0000203 NP530641.RAZPWRY-z2TTV_5M_9h8Iv8WT7CK0bCfzan55SjvRAYTY130_provenance.