Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion> ?p ?o ?g. }
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- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion type Assertion NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_head.
- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion description "[Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family, where a homozygous 2 bp deletion was associated with fatal infantile lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_provenance.
- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion evidence source_evidence_literature NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_provenance.
- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion SIO_000772 19526370 NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_provenance.
- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion wasDerivedFrom befree-20150227 NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_provenance.
- NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_assertion wasGeneratedBy ECO_0000203 NP806080.RA7I7WjXaBQesJ_nDVQ8Vew2HzlC2eG-ej_7YQicerp4k130_provenance.