PRPS1 loss-of-function variants, from isolated hearing loss...

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European Journal of Medical Genetics 2020 / 8

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Ja
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Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104033
Date:
August, 2020
File:
PDF, 1.39 MB
2020
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