Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.L374delFs
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TMEM43

NM_024334.3:p.L374delFs

Associated Papers

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.

Abicht A et al.

Cardiovascular Diagnosis and Therapy, 2021

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
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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."