Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.S265R
Back to variants list

NKX2-5

NM_004387.4:p.S265R

Associated Papers

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_3_suppst3.xlsx › Suppl._Table_3

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

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

van Engelen K et al.

Plos One, 2012

Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.

Hermanns P et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."