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| Calcium and Phosphate disorders v1.18 | ATP6V0A4 | Bryony Thompson Marked gene: ATP6V0A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.18 | ATP6V0A4 | Bryony Thompson Gene: atp6v0a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.18 | ATP6V0A4 |
Bryony Thompson gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A4 were set to 35738466 Phenotypes for gene: ATP6V0A4 were set to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268 Review for gene: ATP6V0A4 was set to RED Added comment: 1 homozygous case with hypophosphataemic rickets and renal tubular dysfunction Sources: Literature |
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