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
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 relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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