Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R205*
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NPR2

NM_003995.4:p.R205*

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

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.

Wei S et al.

Bmc Pediatrics, 2025

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

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Mustafa S et al.

Genes & Genomics, 2020

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

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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."