Varaico: Literature-Extracted Genetic Variants

Gene:CAMK4
Variant:p.K327_A328Splc
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CAMK4

NM_001744.6:p.K327_A328Splc

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder.

Zech M et al.

Cold Spring Harbor Molecular Case Studies, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."