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| Pneumothorax v0.11 | COL3A1 | Sangavi Sivagnanasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301667, 24591672, 22610159, 19420820; Phenotypes: Ehlers-Danlos syndrome, vascular type MONDO:0017314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | COL3A1 |
Bryony Thompson gene: COL3A1 was added gene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608 Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050 |
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