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| Anophthalmia_Microphthalmia_Coloboma v0.138 | RARA | Zornitza Stark Marked gene: RARA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.138 | RARA | Zornitza Stark Gene: rara has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.138 | RARA |
Zornitza Stark gene: RARA was added gene: RARA was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RARA were set to 31343737 Phenotypes for gene: RARA were set to Syndromic chorioretinal coloboma Review for gene: RARA was set to RED Added comment: Single case report of de novo missense variant in association with syndromic coloboma. Sources: Literature |
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