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- source_evidence_literature type ECO_0000212 NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_assertion description "[This report describes a 24-year-old man who presented to the Respiratory Institute after colectomy for JPS with a SMAD4 mutation and who was subsequently diagnosed to have HHT with asymptomatic cerebral and pulmonary arteriovenous malformations (AVMs).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_assertion evidence source_evidence_literature NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_assertion SIO_000772 20685751 NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_assertion wasDerivedFrom befree-20140225 NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_assertion wasGeneratedBy ECO_0000203 NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP738310.RAwPk0eK0a_87z5OzH1K7r4PpXU6Q_AGVoQF9318PrPoc130_provenance.