Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.S280fs
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CAMTA1

NM_015215.4:p.S280fs

Associated Papers

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

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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."