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Hereditary primary lateral sclerosis and progressive nonfluent aphasia.
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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Leal A et al.
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 2015
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