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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-5

Variant:p.Y274S

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NKX2-5

NM_004387.4:p.Y274S

hg38:chr5:173232723 T>G

Associated Papers

Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report.

Ruiz-Pozo VA et al.

Frontiers in Cardiovascular Medicine, 2025

40255339 (PubMed )

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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."