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Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v0.4 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 33729479; 3204769; 23222959; 29479578; 33168530; 31723423
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926