Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion> ?p ?o ?g. }
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- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion type Assertion NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_head.
- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion wasGeneratedBy ECO_0000203 NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_provenance.
- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion wasDerivedFrom befree-2016 NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_provenance.
- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion SIO_000772 18371931 NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_provenance.
- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion evidence source_evidence_literature NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_provenance.
- NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_assertion description "[In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662673.RANfIGoaBgmafE0OX99Gacz4v7qWKzdKoVncjvru4kb4E130_provenance.