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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
Joohyun Park, Bianca R Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B Haack

Journal of Medical Genetics Apr 2020, 57 (4) 283-288; DOI: 10.1136/jmedgenet-2019-106273

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