Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.R1541*
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CAMTA1

NM_015215.4:p.R1541*

Associated Papers

Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.

Orsucci D et al.

Journal of the Neurological Sciences, 2024

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Dzinovic I et al.

Neurogenetics, 2021

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Jacobs EZ et al.

Clinical Genetics, 2021

Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant Phenotype.

Agarwal S et al.

Movement Disorders Clinical Practice, 0

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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."