A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A.,Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-020-00717-5
Date:
September, 2020
Fichier:
PDF, 2.60 MB
2020
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