Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.A83V
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NKX2-5

NM_004387.4:p.A83V

Associated Papers

Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.

Rueda-Gaitán P et al.

Frontiers in Pediatrics, 2025

40918675 (PubMed )
Supplement: Table1.xlsx › VARIANTS

Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect.

Cheng C et al.

Journal of Biomedical Research, 2011

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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."