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- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_assertion type Assertion NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_head.
- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_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." NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_provenance.
- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_assertion evidence source_evidence_literature NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_provenance.
- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_assertion SIO_000772 25132448 NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_provenance.
- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_assertion wasDerivedFrom befree-20150227 NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_provenance.
- NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_assertion wasGeneratedBy ECO_0000203 NP595581.RAfvp_mPv2YpbOWh1FdpFpDM2MJFNr1qrZkLf_1PPQLWY130_provenance.