Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion> ?p ?o ?g. }
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- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion type Assertion NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_head.
- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion description "[The identification of a second mutation in SNAP29 in the present study definitely establishes a causal relationship between defective function of SNAP29 and the pleiotropic manifestations of CEDNIK syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_provenance.
- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion evidence source_evidence_literature NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_provenance.
- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion SIO_000772 21073448 NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_provenance.
- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion wasDerivedFrom befree-20140225 NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_provenance.
- NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_assertion wasGeneratedBy ECO_0000203 NP664196.RAnpZQPQrBonkNoX2IPob-MM9o_KPZB29pA03g58e5AmY130_provenance.