Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion> ?p ?o ?g. }
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- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion type Assertion NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_head.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion evidence source_evidence_literature NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion SIO_000772 19641205 NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion wasDerivedFrom befree-2016 NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion wasGeneratedBy ECO_0000203 NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.