Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.R141C
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CHDH

NM_018397.5:p.R141C

Associated Papers

Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.

Zakariyah AF et al.

Journal of Molecular and Cellular Cardiology, 2017

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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."