Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.H2497P
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CHD8

NM_001170629.2:p.H2497P

Associated Papers

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM7_ESM.xlsx › SuppData6.Sanger_confirmations
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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."