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8. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Peralta S; González-Quintana A; Ybarra M; Delmiro A; Pérez-Pérez R; Docampo J; Arenas J; Blázquez A; Ugalde C; Martín MA Mol Genet Metab; 2019 Dec; 128(4):452-462. PubMed ID: 31727539 [TBL] [Abstract][Full Text] [Related]
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