Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.Q170*
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NKX2-6

NM_001136271.3:p.Q170*

Associated Papers

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

Ritter A et al.

American Journal of Medical Genetics. Part A, 2020

[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

Ta-Shma A et al.

Harefuah, 2018

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

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

Ta-Shma A et al.

Journal of Medical Genetics, 2014

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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."