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- source_evidence_literature type ECO_0000212 NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_assertion description "[High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_assertion evidence source_evidence_literature NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_assertion SIO_000772 16752401 NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_assertion wasDerivedFrom befree-2016 NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_assertion wasGeneratedBy ECO_0000203 NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.
- befree-2016 importedOn "2016-02-19" NP553051.RAkN0B2KFZVQ0QGtTYB8xqBVeBOVXaomtw4Z3ivJDINww130_provenance.