Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion> ?p ?o ?g. }
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- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion type Assertion NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_head.
- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion wasGeneratedBy ECO_0000203 NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_provenance.
- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion wasDerivedFrom befree-2016 NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_provenance.
- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion SIO_000772 17632512 NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_provenance.
- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion evidence source_evidence_literature NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_provenance.
- NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_assertion description "[By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP620187.RA1MZSUFebAqlv2n4Bh76YYXwX-grtcRrkpF_IPJx0ifE130_provenance.