Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.Y297fs
Back to variants list

CAMTA1

NM_015215.4:p.Y297fs

Associated Papers

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Al-Kateb H et al.

Clinical Genetics, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."