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| Mendeliome v1.4421 | AVIL | Bryony Thompson Classified gene: AVIL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4421 | AVIL | Bryony Thompson Gene: avil has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4420 | AVIL |
Bryony Thompson gene: AVIL was added gene: AVIL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AVIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AVIL were set to 29058690 Phenotypes for gene: AVIL were set to Nephrotic syndrome, type 21 MONDO:0032826 Review for gene: AVIL was set to GREEN Added comment: 3 cases with 4 different variants and supporting in vitro functional assays demonstrating that the variants altered podocyte migration. Sources: Literature |
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