Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R318G
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NPR2

NM_003995.4:p.R318G

Associated Papers

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Badawi S et al.

Frontiers in Cell and Developmental Biology, 2023

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.

Zhang R et al.

Plos One, 2020

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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."