Varaico: Literature-Extracted Genetic Variants

Gene:NPR3
Variant:p.Q517fs
Back to variants list

NPR3

NM_001204375.2:p.Q517fs

Associated Papers

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.

Moffatt P et al.

American Journal of Medical Genetics. Part A, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."