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Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
Kocoglu, Cemile; Gundogdu, Asli; Kocaman, Gulsen; Kahraman-Koytak, Pinar; Uluc, Kayihan; Kiziltan, Gunes; Basak, A. Nazli (LIPPINCOTT WILLIAMS & WILKINS, 2018)…