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- source_evidence_literature type ECO_0000212 NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_assertion description "[Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_assertion evidence source_evidence_literature NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_assertion SIO_000772 21932603 NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_assertion wasDerivedFrom befree-2016 NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_assertion wasGeneratedBy ECO_0000203 NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.
- befree-2016 importedOn "2016-02-19" NP925047.RAJhCztDyMkVOVgP-rCPVP2k_iYnphwYco7qrlTHnA8A8130_provenance.