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| Prepair 1000+ v1.7 | ACY1 | Marta Cifuentes Ochoa reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16274666, 16465618, 17562838, 24117009, 37523070, 29653693, 26686503; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ACY1 |
Zornitza Stark gene: ACY1 was added gene: ACY1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 24117009; 16465618; 16274666; 17562838 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924 |
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