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Accession IconSRP034547

Human CLP1 mutations alter tRNA biogenesis affecting both peripheral and central nervous system function

Organism Icon Homo sapiens
Sample Icon 4 Downloadable Samples
Technology Badge IconIllumina HiSeq 2500

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Description
We elucidate a neurological syndrome affecting both the PNS and CNS defined by CLP1 mutations that impair tRNA splicing Overall design: Identification and biochemical characterization of mutant CLP1 in human patients
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4
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No associated institution

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