Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.D132V
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CALM2

NM_001743.6:p.D132V

Associated Papers

Generation of a human induced pluripotent stem cell line ZZUNEUi030-A from a female patient carrying a heterozygous CALM2 (c.395 A > T) mutation.

Hua C et al.

Stem Cell Research, 2024

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

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Pipilas DC et al.

Heart Rhythm, 2016

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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."