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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-5

Variant:p.K183_F186del0

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NKX2-5

NM_004387.4:p.K183_F186del0

hg38:chr5:173232985 GGAACCAGATCTT>G

Associated Papers

MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.

Zhang E et al.

Journal of Molecular Medicine (berlin, Germany), 2020

32572506 (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."