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- source_evidence_literature type ECO_0000212 NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion evidence source_evidence_literature NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion SIO_000772 14614393 NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion wasDerivedFrom befree-2016 NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion wasGeneratedBy ECO_0000203 NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- befree-2016 importedOn "2016-02-19" NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.