Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion> ?p ?o ?g. }
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- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion type Assertion NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_head.
- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion description "[A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_provenance.
- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion evidence source_evidence_curated NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_provenance.
- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion SIO_000772 9621520 NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_provenance.
- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion wasDerivedFrom uniprot-20150221 NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_provenance.
- NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_assertion wasGeneratedBy ECO_0000218 NP2702.RAujNBcXipgvvA0XeMqwNPswuaek0TYOa4xLtMEg15leI130_provenance.