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Article

Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.

Life sciences - 15 Feb 2024

Zhang Yuwei, Xue Yuqing, Ma Yu, Du Xiaonan, Lu Boxun, Wang Yi, Yan Zhiqiang

Abstract excerpt

AIMS: The paucity of functional annotations on hundreds of KCNQ2 variants impedes the diagnosis and treatment of KCNQ2-related disorders. The aims of this work were to determine the functional properties of 331 clinical KCNQ2 variants, interpreted the pathogenicity of 331 variants using functional data，and explored the association between homomeric channel functions and phenotypes. MAIN METHODS: We collected 145...

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Share to Epilepsy
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Share to KCNQ2 Potassium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38142737
DOI: 10.1016/j.lfs.2023.122378

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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