. . . . . . . "[We identified a homozygous missense mutation (c.1940 T-- > C [p.647 Phe-- > Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:45+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .