Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion> ?p ?o ?g. }
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- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion type Assertion NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_head.
- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion description "[We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) [Tavormina et al., 1999: Am.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_provenance.
- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion evidence source_evidence_literature NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_provenance.
- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion SIO_000772 10377013 NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_provenance.
- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion wasDerivedFrom befree-2016 NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_provenance.
- NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_assertion wasGeneratedBy ECO_0000203 NP255602.RAJtwUiaAJg1tJt-xD-x_s8zG7XvItz3UPAKLFFjnt_fg130_provenance.