Varaico: Literature-Extracted Genetic Variants

Gene:FLII
Variant:p.L674V
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FLII

NM_002018.4:p.L674V

Associated Papers

Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.

Ruijmbeek CW et al.

Jci Insight, 2023

A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.

Kuwabara Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37126682 (PubMed )
Supplement: pnas.2213696120.sapp.pdf

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

Al-Hassnan ZN et al.

Circulation. Genomic and Precision Medicine, 2020

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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."