Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation
Shohet, Adi, Cohen, Lior, Haguel, Danielle, Mozer, Yael, Shomron, Noam, Tzur, Shay, Bazak, Lily, Basel Salmon, Lina, Krause, IritLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-018-0268-2
Date:
September, 2018
File:
PDF, 698 KB
english, 2018