Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion type Assertion NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_head.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion wasGeneratedBy ECO_0000203 NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion wasDerivedFrom befree-20140225 NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion SIO_000772 11055896 NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion evidence source_evidence_literature NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.
- NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_assertion description "[Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP296207.RAe2ltgw9YOgQr6XNhLmly-N81vZynogEii4XGLo0fp4g130_provenance.