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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

Marini, Carla; Hardies, Katia; Pisano, Tiziana et al.

2017 • In American Journal of Medical Genetics. Part A, 173 (4), p. 1119-1123

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SLC35A3. AJMG 2016.pdf

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