Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

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Detalles Bibliográficos
Publicado en:Brain
Main Authors: Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
Letters to the Editor
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586085/
https://ncbi.nlm.nih.gov/pubmed/33011761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa256
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