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| Pneumothorax v0.11 | SERPINA1 | Sangavi Sivagnanasundram reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38633947, 20301692; Phenotypes: alpha 1-antitrypsin deficiency MONDO:0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | SERPINA1 |
Bryony Thompson gene: SERPINA1 was added gene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422 Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490 |
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