S-EPMC7115925 - Homozygous C-terminal loss-of-function Na<sub>V</sub>1.4 variant in a patient with congenital myasthenic syndrome. - OmicsDI

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Homozygous C-terminal loss-of-function Na<sub>V</sub>1.4 variant in a patient with congenital myasthenic syndrome.

ABSTRACT:

SUBMITTER: Echaniz-Laguna A

PROVIDER: S-EPMC7115925 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature