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Results for congenital muscular dystrophy

Publications & Outputs

  1. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

    Wiessner, M. & De Goede, C., 2/03/2017, In: American Journal of Human Genetics. 100, 3, p. 523-536 14 p.

    Research output: Contribution to Journal/MagazineJournal articlepeer-review