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- source_evidence_literature type ECO_0000212 NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_assertion description "[This study provides the first evidence for a homozygous missense mutation in SCN5A and suggests that LQTS with functional 2:1 AVB in young children, a severe phenotype associated with bad prognosis, may be caused by homozygous or heterozygous compound mutations not only in HERG but also in SCN5A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_assertion evidence source_evidence_literature NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_assertion SIO_000772 11463728 NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_assertion wasDerivedFrom befree-2016 NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_assertion wasGeneratedBy ECO_0000203 NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.
- befree-2016 importedOn "2016-02-19" NP324537.RA-x7V7pyahjuVR-WPGOcDlJMHzK9HMGRxnDvdx9q7tfs130_provenance.