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| Mendeliome v1.3298 | ALDH1B1 | Zornitza Stark Marked gene: ALDH1B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3298 | ALDH1B1 | Zornitza Stark Gene: aldh1b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3298 | ALDH1B1 |
Zornitza Stark gene: ALDH1B1 was added gene: ALDH1B1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ALDH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALDH1B1 were set to 40988636 Phenotypes for gene: ALDH1B1 were set to Congenital pulmonary airway malformation, MONDO:0016580, ALDH1B1-related Review for gene: ALDH1B1 was set to RED Added comment: Single individual with missense variant reported in a CPAM cohort. Sources: Literature |
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