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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Query Trace: Hirsutism and WAC[original query]
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
Journal of medical genetics 2015 Aug .
DeSanto Cori, D'Aco Kristin, Araujo Gabriel C, Shannon Nora, Study Ddd, Vernon Hilary, Rahrig April, Monaghan Kristin G, Niu Zhiyv, Vitazka Patrik, Dodd Jonathan, Tang Sha, Manwaring Linda, Martir-Negron Arelis, Schnur Rhonda E, Juusola Jane, Schroeder Audrey, Pan Vivian, Helbig Katherine L, Friedman Bethany, Shinawi Marw
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