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pro vyhledávání: '"Jon N. Shah"'
Autor:
Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella‐Maria Kadas, Maria Rönnefarth, Anne‐Sophie Grosch, Matthias Endres, Katrin Amunts, Friedemann Paul, Sarah Doss, Martina Minnerop
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 774-789 (2021)
Abstract Objectives Genetic variant classification is a challenge in rare adult‐onset disorders as in SCA‐PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined
Externí odkaz:
https://doaj.org/article/01bebd976eac43a5bb41b90154ae31c0
