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| Mendeliome v2.78 | CTBP2 | Zornitza Stark Marked gene: CTBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.78 | CTBP2 | Zornitza Stark Gene: ctbp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.65 | CTBP2 |
Lucy Spencer gene: CTBP2 was added gene: CTBP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTBP2 were set to 42192612 Phenotypes for gene: CTBP2 were set to Congenital hypothyroidism MONDO:0018612, CTBP2-related Review for gene: CTBP2 was set to RED Added comment: PMID: 42192612 reports 1 individual biallelic CTBP2 missense variants (T417A and H380R) presenting with childhood onset congenital hypothyroidism. Knockdown of ctbp2 in Zebrafish showed thyroid hypoplasia. Sources: Literature |
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