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| Aortopathy_Connective Tissue Disorders v0.129 | FBLN5 | Zornitza Stark Marked gene: FBLN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.129 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.129 | FBLN5 | Zornitza Stark Classified gene: FBLN5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.129 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.128 | FBLN5 |
Zornitza Stark gene: FBLN5 was added gene: FBLN5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBLN5 were set to 3232707; 22829427; 11805835 Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, MIM# 219100 Review for gene: FBLN5 was set to GREEN Added comment: >3 families reported and functional data including mouse model. Sources: Expert list |
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