A. Nguyen

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

M. Bamshad, V. Caputo, A. Pizzuti, 2016, American journal of human genetics.

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

M. Bamshad, V. Caputo, A. Pizzuti, 2016, bioRxiv.