Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion> ?p ?o ?g. }
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- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion type Assertion NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_head.
- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion description "[Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_provenance.
- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion evidence source_evidence_literature NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_provenance.
- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion SIO_000772 25132448 NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_provenance.
- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion wasDerivedFrom befree-2016 NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_provenance.
- NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_assertion wasGeneratedBy ECO_0000203 NP1211570.RAkS40squIf73925OdYswjdJ4kEWVu8za1ZAlUpz1vELo130_provenance.