Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.G630fs
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NPR2

NM_003995.4:p.G630fs

Associated Papers

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Irfanullah et al.

The International Journal of Biochemistry & Cell Biology, 2018

Genetics of human isolated acromesomelic dysplasia.

Khan S et al.

European Journal of Medical Genetics, 2016

Role of the natriuretic peptide system in normal growth and growth disorders.

Vasques GA et al.

Hormone Research in Paediatrics, 2014

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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."