Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.N291I
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NKX2-5

NM_004387.4:p.N291I

Associated Papers

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

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

Wang F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."