Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
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DOI: 10.1007/s00401-020-02128-8
Abstract: Several intracellular proteins are involved in mediating vesicular transport of protein and lipid cargo from the endoplasmic reticulum (ER) to the Golgi apparatus (GA) in eukaryotic cells. Errors in membrane trafficking between ER and GA… read more here.
Keywords: epilepsy; yif1b cause; progressive encephalopathy; truncating mutations ... See more keywords