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| Common deletion and duplication syndromes v0.106 | ISCA-37425-Gain | Zornitza Stark Marked Region: ISCA-37425-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.106 | ISCA-37425-Gain | Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.106 | ISCA-37425-Gain | Zornitza Stark Classified Region: ISCA-37425-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.106 | ISCA-37425-Gain | Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.105 | ISCA-37425-Gain |
Zornitza Stark Region: ISCA-37425-Gain was added Region: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37425-Gain. Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37425-Gain were set to 24819041 Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures Review for Region: ISCA-37425-Gain was set to GREEN Added comment: Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function. Sources: Expert list |
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