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- source_evidence_literature type ECO_0000212 NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_assertion description "[Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_assertion evidence source_evidence_literature NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_assertion SIO_000772 11055896 NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_assertion wasDerivedFrom befree-2016 NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_assertion wasGeneratedBy ECO_0000203 NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.
- befree-2016 importedOn "2016-02-19" NP298860.RANjgS9sYJIDY-Rmoiyo8UreeFoxxNbuMnJqY1y8NxTeU130_provenance.