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| Common deletion and duplication syndromes v0.100 | ISCA-37423-Gain | Zornitza Stark Marked Region: ISCA-37423-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.100 | ISCA-37423-Gain | Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.100 | ISCA-37423-Gain | Zornitza Stark Classified Region: ISCA-37423-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.100 | ISCA-37423-Gain | Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.99 | ISCA-37423-Gain |
Zornitza Stark Region: ISCA-37423-Gain was added Region: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37423-Gain. Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754 Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease Review for Region: ISCA-37423-Gain was set to GREEN Added comment: Well established CNV. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease. Sources: Expert list |
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