De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Author: Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B.
Tübinger Autor(en):
Park, Joohyun
Küpper, Hanna
Rautenberg, Maren
Deininger, Natalie
Weichselbaum, Annette
Grimm, Alexander
Sturm, Marc
Grasshoff, Ute
Haack, Tobias
Published in: Journal of Medical Genetics (2020), Bd. 57, H. 4, S. 283-288
Verlagsangabe: Bmj Publishing Group
Language: English
Full text: http://dx.doi.org/10.1136/jmedgenet-2019-106273
ISSN: 1468-6244
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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