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Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A
Esteve, Clothilde; Francescatto, Ludmila; Tan, Perciliz; Bourchany, Aurelie; De Leusse, Cecile; et al. bioRxiv, Oct 26, 2017.You might have access to this document
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