Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.L682F
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VCL

NM_014000.3:p.L682F

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

Genetic study of pediatric hypertrophic cardiomyopathy in Egypt.

Darwish RK et al.

Cardiology in the Young, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316
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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."