Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.E224insFs
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VCL

NM_014000.3:p.E224insFs

Associated Papers

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

Heart Failure with Recovered Ejection Fraction in Patients with Vinculin Loss-of-function Variants.

Zahavich L et al.

Journal of Cardiovascular Translational Research, 2023

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Hawley MH et al.

Human Mutation, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7
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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."