Article

Genotype-Phenotype Correlation in CLCN4-Related Developmental and Epileptic Encephalopathy

2023-12-11

Abstract excerpt

<title>Abstract</title> <p><italic>CLCN4</italic>-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. <italic>CLCN4 </italic>encodes the vesicular 2Cl<sup>-</sup>/H<sup>+</sup> exchanger ClC-4, and <italic>CLCN4</italic> pathogenic variants frequently result in altered ClC-4 transport activity<italic>. </italic>The precise cellular and molecular funct...

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Literature Corpus work: b96a0f66-d0a2-5f17-97fa-01bb5e45c380
DOI: 10.21203/rs.3.rs-3706837/v1

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