Varaico: Literature-Extracted Genetic Variants

Gene:CALR3
Variant:p.R73Q
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CALR3

NM_145046.5:p.R73Q

Associated Papers

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA et al.

European Journal of Human Genetics : Ejhg, 2018

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

Calcium Signaling and Cardiac Arrhythmias.

Landstrom AP et al.

Circulation Research, 2017

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Landstrom AP et al.

Current Molecular Medicine, 2012

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

Chiu C et al.

Journal of Molecular and Cellular Cardiology, 2007

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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."