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Renal Tubulopathies and related disorders v0.4 | KL |
Zornitza Stark gene: KL was added gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KL were set to 17710231; 31013726; 9363890 Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 |
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Renal Tubulopathies and related disorders v0.4 | KLHL3 |
Zornitza Stark gene: KLHL3 was added gene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939 Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495 |