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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMTA1

Variant:p.W1197fs

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CAMTA1

NM_015215.4:p.W1197fs

hg38:chr1:7737501 TGG>N

Associated Papers

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

Dzinovic I et al.

Neurogenetics, 2021

33677721 (PubMed )

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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."