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- source_evidence_literature type ECO_0000212 NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_assertion description "[Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_assertion evidence source_evidence_literature NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_assertion SIO_000772 24726473 NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_assertion wasDerivedFrom befree-2016 NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_assertion wasGeneratedBy ECO_0000203 NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1172837.RA4YErRnZCl9c9Rq3EzVeMDkOCD4p0cA-9poOU8uqaNE8130_provenance.