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| Ehlers Danlos syndromes v0.1 | COL1A2 | Bryony Thompson Added phenotypes Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060 for gene: COL1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndromes v0.0 | COL1A2 |
Bryony Thompson gene: COL1A2 was added gene: COL1A2 was added to Ehlers Danlos syndromes. Sources: Expert Review Green,International EDS Consortium Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Arthrochalasia EDS; Cardiac-valvular EDS; Ehlers Danlos syndrome, type VIIB (AD), 130060 |
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