DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Chong JX, Caputo V, Phelps IG. , et al; University of Washington Center for Mendelian Genomics.
Recessive inactivating mutations in TBCK, encoding a rab GTPase-activating protein, cause severe infantile syndromic encephalopathy.
Am J Hum Genet 2016;
98 (04) 772-781
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