Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.R1594*
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CAMTA1

NM_015215.4:p.R1594*

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

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

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC
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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."