Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.Y248*
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NKX2-5

NM_004387.4:p.Y248*

Associated Papers

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS et al.

Genome Medicine, 2024

39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11

A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

Yamada Y et al.

Journal of Clinical Medicine, 2022

Genetic architecture of left ventricular noncompaction in adults.

Ross SB et al.

Human Genome Variation, 2020

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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."