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- source_evidence_literature type ECO_0000212 NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_assertion description "[The syndrome o SEDT, precocious OA, and brachydactyly in a kindred of Chiloe Islanders is associated with a point mutation in 1 allele of the COL2A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_assertion evidence source_evidence_literature NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_assertion SIO_000772 8024616 NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_assertion wasDerivedFrom befree-20150227 NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_assertion wasGeneratedBy ECO_0000203 NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP319465.RAiMLZuSaurQPuY9wHcCqd7gd5dj8BAwKUKijoL-g8xOQ130_provenance.