Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion> ?p ?o ?g. }
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- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion type Assertion NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_head.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_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." NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion evidence source_evidence_literature NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion SIO_000772 20034074 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion wasDerivedFrom befree-2016 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.
- NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_assertion wasGeneratedBy ECO_0000203 NP783617.RAPBekE8eXw_lLmxY9XuPbXgCkwEtczxpltMQCOgbH9j0130_provenance.