Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.H948fs
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NPR2

NM_003995.4:p.H948fs

Associated Papers

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

Wei S et al.

Bmc Pediatrics, 2025

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.

Chen H et al.

Orphanet Journal of Rare Diseases, 2023

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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."