Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.D96H
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CALM1

NM_006888.6:p.D96H

Associated Papers

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.

Chaix MA et al.

Heartrhythm Case Reports, 2016

28491681 (PubMed )
Supplement: mmc2.docx
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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."