DOI: 10.1055/s-00029030

Journal of Pediatric Neurology


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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