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| Renal Tubulopathies and related disorders v0.4 | RRM2B |
Zornitza Stark gene: RRM2B was added gene: RRM2B was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 32827185; 24741716 Phenotypes for gene: RRM2B were set to Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 |
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