Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E60Q
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NKX2-5

NM_004387.4:p.E60Q

Associated Papers

Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome.

Artamonova IN et al.

Frontiers in Pediatrics, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

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

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Han MR et al.

Experimental & Molecular Medicine, 2018

29422544 (PubMed )
Supplement: emm2017265x2.pdf
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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."