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25. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. Low KJ; Stals K; Caswell R; Wakeling M; Clayton-Smith J; Donaldson A; Foulds N; Norman A; Splitt M; Urankar K; Vijayakumar K; Majumdar A; Study D; Ellard S; Smithson SF Eur J Hum Genet; 2018 Jun; 26(6):796-807. PubMed ID: 29511323 [TBL] [Abstract][Full Text] [Related]
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