Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
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ABSTRACT:
SUBMITTER: Echaniz-Laguna A
PROVIDER: S-EPMC7115925 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Publications
Homozygous C-terminal loss-of-function Na<sub>V</sub>1.4 variant in a patient with congenital myasthenic syndrome.
Echaniz-Laguna Andoni A Biancalana Valérie V Nadaj-Pakleza Aleksandra A Fournier Emmanuel E Matthews Emma E Hanna Michael G MG Männikkö Roope R
Journal of neurology, neurosurgery, and psychiatry 20200602 8
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