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
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P et al.
Journal of the Endocrine Society, 2022
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Boudin E et al.
American Journal of Human Genetics, 2018
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