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- source_evidence_literature type ECO_0000212 NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_assertion description "[Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_assertion evidence source_evidence_literature NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_assertion SIO_000772 15253765 NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_assertion wasDerivedFrom befree-2016 NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_assertion wasGeneratedBy ECO_0000203 NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP451947.RA0EIf83y-d3m22ihSJ82zYSOSrl9kZrLLweNTNjXnCmQ130_provenance.