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Spinocerebellar "ataxia," autosomal recessive 25
- ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition characterized by ... Tests of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder M, Dvorakova ...
- ... Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. ... by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum ...