Associated Papers
SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.
Bundalian L et al.
Nar Genomics and Bioinformatics, 2026
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
Ishida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches.
Schöneberg T et al.
Pharmacological Reviews, 2021
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter MH et al.
European Journal of Pediatrics, 2016
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