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Renal Tubulopathies and related disorders v0.4 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: OCRL 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: OCRL were set to 19773212, 27625797 Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000 |