Varaico: Literature-Extracted Genetic Variants

Gene:ILK
Variant:p.R211C
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ILK

NM_004517.4:p.R211C

Associated Papers

Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

van der Ende S et al.

Investigative Ophthalmology & Visual Science, 2025

39918476 (PubMed )
Supplement: iovs-66-2-23_s001.pdf

Modeling Cardiotoxicity in Pediatric Oncology Patients Using Patient-Specific iPSC-Derived Cardiomyocytes Reveals Downregulation of Cardioprotective microRNAs.

Reinal I et al.

Antioxidants (basel, Switzerland), 2023

37507917 (PubMed )
Supplement: antioxidants-12-01378-s001.zip › antioxidants-2460849-supplementary.xlsx › Genes_and_associated_variants

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

Park H et al.

Nature Communications, 2019

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Tarnovskaya S et al.

Amino Acids, 2017

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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."