Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.K2812R
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AHNAK2

NM_138420.4:p.K2812R

Associated Papers

Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.

Jin JY et al.

Frontiers in Cell and Developmental Biology, 2025

40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
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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."