Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R787W
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NPR2

NM_003995.4:p.R787W

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: mmc1.pdf

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

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

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.

Hwang IT et al.

Molecular Genetics & Genomic Medicine, 2020

A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.

Wang B et al.

American Journal of Medical Genetics. Part A, 2016

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Wang SR et al.

Human Mutation, 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."