Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.L51P
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NPR2

NM_003995.4:p.L51P

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Badawi S et al.

Frontiers in Cell and Developmental Biology, 2023

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

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.

Tran TH et al.

American Journal of Medical Genetics. Part A, 2019

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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."