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Article

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

3 Dec 2020

Abstract excerpt

Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonstrate its phenotypic diversity and analyze the genotype-phenotype correlations in a cohort of Chinese patients....

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PMID: 33425808
DOI: 10.3389/fped.2020.577544

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