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- source_evidence_literature type ECO_0000212 NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_assertion evidence source_evidence_literature NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_assertion SIO_000772 21044901 NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_assertion wasDerivedFrom befree-2016 NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_assertion wasGeneratedBy ECO_0000203 NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.
- befree-2016 importedOn "2016-02-19" NP849989.RA8S8Tiwu-oRxVWiAYgUl16MqhZUR8GzSiRxkgjY68vdg130_provenance.