Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion> ?p ?o ?g. }
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- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion type Assertion NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_head.
- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion description "[Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_provenance.
- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion evidence source_evidence_literature NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_provenance.
- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion SIO_000772 10200283 NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_provenance.
- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion wasDerivedFrom befree-2016 NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_provenance.
- NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_assertion wasGeneratedBy ECO_0000203 NP249931.RAcyb4K8G2Ven359t1U4h3FWq4YnoQ9WRdGcS6_dwvNyU130_provenance.