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Renal Tubulopathies and related disorders v0.4 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203 Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800 |