DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Bhoj EJ, Li D, Harr M. , et al.
Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia.
Am J Hum Genet 2016;
98 (04) 782-788
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