Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.F90L
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CALM2

NM_001743.6:p.F90L

Associated Papers

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2020

The Crossroad of Ion Channels and Calmodulin in Disease.

Urrutia J et al.

International Journal of Molecular Sciences, 2019

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

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.

Anderson JH et al.

Circulation. Cardiovascular Genetics, 2016

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

Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases.

Lahrouchi N et al.

Frontiers in Cardiovascular Medicine, 2016

Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

Vassilakopoulou V et al.

Biochimica Et Biophysica Acta, 2015

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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."