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- source_evidence_literature type ECO_0000212 NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_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." NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_assertion evidence source_evidence_literature NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_assertion SIO_000772 10200283 NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_assertion wasDerivedFrom befree-20150227 NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_assertion wasGeneratedBy ECO_0000203 NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP400926.RAicJShuei8i_c_L09EkY9UjeRaWD0chsjqHX3oMEPKG0130_provenance.