Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.I364delFs
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NPR2

NM_003995.4:p.I364delFs

Associated Papers

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.

Jeong R et al.

American Journal of Human Genetics, 2026

41512838 (PubMed )
Supplement: mmc9.xlsx › Height_associations_with_NPR2

Identifying therapeutic drug targets using bidirectional effect genes.

Estrada K et al.

Nature Communications, 2021

33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6

Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.

Arya VB et al.

Hormone Research in Paediatrics, 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

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

Vasques GA et al.

Hormone Research in Paediatrics, 2014

C-type natriuretic peptide in growth: a new paradigm.

Olney RC

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2006

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.

Olney RC et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."