Varaico: Literature-Extracted Genetic Variants

Gene:CALR3
Variant:p.D135N
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CALR3

NM_145046.5:p.D135N

Associated Papers

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Thomson KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30531895 (PubMed )
Supplement: 41436_2018_375_MOESM1_ESM.xlsx › Table_S13

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

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

Verhagen JMA et al.

European Journal of Human Genetics : Ejhg, 2018

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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."