Matches in Nanopublications for { ?s ?p "[The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 3 of
3
with 100 items per page.
- NP870183.RAfE1KCYjhBOyxNIpIVkCIDuBIGATth11g63eWBKgCWwA130_assertion description "[The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP870183.RAfE1KCYjhBOyxNIpIVkCIDuBIGATth11g63eWBKgCWwA130_provenance.
- assertion description "[The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion description "[The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.