Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.P247A
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NKX2-5

NM_004387.4:p.P247A

Associated Papers

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.

Bolunduț AC et al.

Children (basel, Switzerland), 2023

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Narta K et al.

Genes, 2023

36833422 (PubMed )
Supplement: genes-14-00495-s001.zip › Narta_et_al_Supplementary_Tables.xlsx › Table_S4_SNVs

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

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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."