Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P280L
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NKX2-5

NM_004387.4:p.P280L

Associated Papers

Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.

Han B et al.

Medicine, 2022

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

Szczepanek-Parulska E et al.

International Journal of Molecular Sciences, 2022

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.

Khatami M et al.

Medicina (kaunas, Lithuania), 2018

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

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

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Vaqué JP et al.

Plos One, 2015

25775023 (PubMed )
Supplement: pone.0119946.s007.xls › Hoja5

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

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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."