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Gene Review

PLEKHG5  -  pleckstrin homology domain containing,...

Homo sapiens

Synonyms: CMTRIC, DSMA4, GEF720, Guanine nucleotide exchange factor 720, KIAA0720, ...
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Associations of PLEKHG5 with chemical compounds


  1. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Maystadt, I., Rezsöhazy, R., Barkats, M., Duque, S., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E., Munnich, A., Viollet, L., Verellen-Dumoulin, C. Am. J. Hum. Genet. (2007) [Pubmed]
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