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T1  - Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype 
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UR  - http://hdl.handle.net/10138/332971 
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A1  - Knuutinen, Oula; Pyle, Angela; Suo-Palosaari, Maria; Duff, Jennifer; Froukh, Tawfiq; Lehesjoki, Anna-Elina; Kangas, Salla M.; Cassidy, James; Maraqa, Latifa; Keski-Filppula, Riikka; Kokkonen, Hannaleena; Uusimaa, Johanna; Horvath, Rita; Vieira, Päivi 
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Y1  - 2020 
LA  - eng 
AB  - TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygousTAF1Cmissense variants and an early onset neurological phenotype with severe global developmental delay. Clinical features included lack of speech and ambulation and epilepsy. MRI of the brain demonstrated widespread cerebral atrophy and frontal periventricular white mat... 
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KW  - brain atrophy; infantile spasms; Pol I transcription initiation complex proteins; TATA-binding protein associated factors; ENCEPHALOPATHY; PROTEIN; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology 
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