Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.V109G
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LMNA

NM_170707.4:p.V109G

Associated Papers

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.

Zaragoza MV et al.

Cells, 2024

39273049 (PubMed )
Supplement: cells-13-01479-s001.zip › Excel.Table.S4.AllelicExpression.xlsx › 1-Autosomal.SNV

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Elfatih A et al.

Human Molecular Genetics, 2022

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