Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.D256Y
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NPR2

NM_003995.4:p.D256Y

Associated Papers

Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.

Ke X et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Hisado-Oliva A et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."