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Congenital Heart Defect v0.464 | ASXL3 | Zornitza Stark Marked gene: ASXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.464 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.464 | ASXL3 |
Zornitza Stark gene: ASXL3 was added gene: ASXL3 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: ASXL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASXL3 were set to 32696347 Phenotypes for gene: ASXL3 were set to Congenital heart disease, MONDO:0005453, ASXL3-related Review for gene: ASXL3 was set to RED Added comment: Two families reported with compound heterozygous variants and some supportive functional data. Sources: Literature |