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Prepair 1000+ v1.3 | ASPA | Seb Lunke Added phenotypes Canavan disease, 271900 (3) for gene: ASPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.3 | ASNS | Seb Lunke Added phenotypes Asparagine synthetase deficiency, 615574 (3) for gene: ASNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.3 | AGA | Seb Lunke Added phenotypes Aspartylglucosaminuria, 208400 (3) for gene: AGA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3) |
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Prepair 1000+ v0.0 | ASNS |
Zornitza Stark gene: ASNS was added gene: ASNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3) |
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Prepair 1000+ v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3) |