Varaico: Literature-Extracted Genetic Variants

Gene:ILK
Variant:p.P70L
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ILK

NM_004517.4:p.P70L

Associated Papers

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

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models.

Risato G et al.

Cells, 2024

Using Zebrafish Animal Model to Study the Genetic Underpinning and Mechanism of Arrhythmogenic Cardiomyopathy.

Niu Y et al.

International Journal of Molecular Sciences, 2023

Modeling Inherited Cardiomyopathies in Adult Zebrafish for Precision Medicine.

Ding Y et al.

Frontiers in Physiology, 2020

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Brodehl A et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2019

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.

Stubbs A et al.

Journal of Clinical Bioinformatics, 2012

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

Meder B et al.

Circulation. Cardiovascular Genetics, 2011

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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."