Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion> ?p ?o ?g. }
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- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion type Assertion NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_head.
- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_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." NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_provenance.
- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion evidence source_evidence_literature NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_provenance.
- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion SIO_000772 19526370 NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_provenance.
- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion wasDerivedFrom befree-2016 NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_provenance.
- NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_assertion wasGeneratedBy ECO_0000203 NP745342.RAX5UxehBanG5hFDLwdAVOdyrkPlU1ftmXi6IPmtXTjks130_provenance.