The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
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Full Title: Neurogenetics
Abbreviation: Neurogenetics
Country: Unknown
Publisher: Unknown
Language: N/A
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Evidence found in paper:
"We thank the patients and other family members for their cooperation in this study and Dr. Carolina Céspedes for the technical assistance. Support from the University of Costa Rica is gratefully acknowledged (project 111-B2-372). We dedicate this paper in memory of Prof. Bernd Rautenstrauß, who initiated this study 20 years ago and sadly passed away in 2015."
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Last Updated: Aug 05, 2025