Varaico: Literature-Extracted Genetic Variants

Gene:ILK
Variant:p.L53M
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ILK

NM_004517.4:p.L53M

Associated Papers

Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy.

Park H et al.

Nature Communications, 2019

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Tarnovskaya S et al.

Amino Acids, 2017

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.

Begay RL et al.

Jacc. Basic to Translational Science, 2016

28008423 (PubMed )
Supplement: mmc1.pdf
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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."