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2. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. Gatti M; Magri S; Nanetti L; Sarto E; Di Bella D; Salsano E; Pantaleoni C; Mariotti C; Taroni F Am J Med Genet A; 2019 Nov; 179(11):2277-2283. PubMed ID: 31436889 [TBL] [Abstract][Full Text] [Related]
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