Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion> ?p ?o ?g. }
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- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion type Assertion NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_head.
- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion description "[In HNF-1alpha, previously reported mutations (R271W and R272C) and one novel sequence variant (at nucleotide -129/-130 insTTGGGG of the promoter region) were identified in three different Japanese patients with juvenile-onset non-obese diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_provenance.
- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion evidence source_evidence_literature NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_provenance.
- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion SIO_000772 16562587 NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_provenance.
- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion wasDerivedFrom lhgdn-20090331 NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_provenance.
- NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_assertion wasGeneratedBy ECO_0000203 NP184046.RAnU2rozUA7gm8RFuv_hBk--T-30gnqrvBskXe1ImZFm4130_provenance.