Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion> ?p ?o ?g. }
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- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion type Assertion NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_head.
- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion wasGeneratedBy ECO_0000203 NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_provenance.
- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion wasDerivedFrom befree-2016 NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_provenance.
- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion SIO_000772 24796372 NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_provenance.
- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion evidence source_evidence_literature NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_provenance.
- NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_assertion description "[The reported patient had binucleotide deletion mutation in G6PC3 and displayed the full spectrum of clinical manifestations associated with G6PC3 deficiency including neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1179367.RAyvWtKS8HanhFcmm17WZHsgAjfXBco-Inqx-35l0I1A4130_provenance.