Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.R1604K
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ANK2

NM_001148.6:p.R1604K

Associated Papers

Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.

Guo L et al.

Reviews in Cardiovascular Medicine, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

Bora E et al.

Molecular Syndromology, 2023

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L10
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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."