Varaico: Literature-Extracted Genetic Variants

Gene:NR1D2
Variant:p.R175W
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NR1D2

NM_005126.5:p.R175W

Associated Papers

Genetic disorders of nuclear receptors.

Achermann JC et al.

The Journal of Clinical Investigation, 2017

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR et al.

Plos Genetics, 2016

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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."