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| DDG2P v3.12 | ATP6V1B1 | Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566520, 18798332, 9916796; Phenotypes: DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OMIM:267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP6V1B1 | Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATP6V1B1 |
Rebecca Foulger gene: ATP6V1B1 was added gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796 Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 |
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