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| Mendeliome v1.480 | AFDN | Zornitza Stark Marked gene: AFDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.480 | AFDN | Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.480 | AFDN |
Zornitza Stark gene: AFDN was added gene: AFDN was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AFDN were set to 36384317 Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related Review for gene: AFDN was set to RED Added comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position. Sources: Literature |
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