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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-5

Variant:p.E112Splc

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NKX2-5

NM_004387.4:p.E112Splc

hg38:chr5:173233221 C>T

Associated Papers

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

34214246 (PubMed )

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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."