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1 - 3 of 3 results found for INPP5K.

  1. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping...

  2. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular...

    Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies

  3. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

    © 2020, The Author(s). Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM

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