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| Mendeliome v1.2671 | RDH8 | Zornitza Stark Marked gene: RDH8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2671 | RDH8 | Zornitza Stark Gene: rdh8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2671 | RDH8 |
Zornitza Stark gene: RDH8 was added gene: RDH8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RDH8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RDH8 were set to 37628710; 18048336; 22621924 Phenotypes for gene: RDH8 were set to Stargardt disease 5, MIM# 621259 Review for gene: RDH8 was set to RED Added comment: Two siblings reported with homozygous splicing variant and Stargardt disease, some supportive functional data. Sources: Literature |
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