Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.M329I
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EYA4

NM_004100.5:p.M329I

Associated Papers

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.

Chin JJ et al.

Human Genetics, 2025

41020988 (PubMed )
Supplement: 439_2025_2782_MOESM1_ESM.xlsx › MORL-2

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

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
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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."