Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.S234insFs
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NKX2-5

NM_004387.4:p.S234insFs

Associated Papers

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

25742962 (PubMed )
Supplement: srep08848-s1.docx

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.

König K et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2006

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Hirayama-Yamada K et al.

American Journal of Medical Genetics. Part A, 2005

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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."