Varaico: Literature-Extracted Genetic Variants

Gene:CAMK4
Variant:p.R129Splc
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CAMK4

NM_001744.6:p.R129Splc

Associated Papers

Evolutionary Characteristics in Primary Aldosteronism Patients.

Gao Y et al.

Hypertension (dallas, Tex. : 1979), 2025

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."