Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion> ?p ?o ?g. }
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- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion type Assertion NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_head.
- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion description "[Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_provenance.
- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion evidence source_evidence_literature NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_provenance.
- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion SIO_000772 20034074 NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_provenance.
- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion wasDerivedFrom befree-20150227 NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_provenance.
- NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_assertion wasGeneratedBy ECO_0000203 NP401260.RAU4p6su0a4K6oIgcRU1-4MZpfESm50Jr4L5d2V5j_NYk130_provenance.