Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
- 22 September 2016
- journal article
- other
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 99 (4), 962-973
- https://doi.org/10.1016/j.ajhg.2016.08.003
Abstract
No abstract availableFunding Information
- Fondazione Bambino Gesù (Vite Coraggiose)
- Bulgari (GeneRare)
- Ministero della Salute (RC2016)
- CINECA
- Marion Merrell Dow Foundation
- W.T. Kemper Foundation
- Pat & Gil Clements Foundation
- Claire Giannini Foundation
- Black & Veatch
- NIH (R01GM090158, F31CA189672)
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