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| Repeat Disorders v0.146 | FRAXF | Zornitza Stark Tag paediatric-onset tag was added to STR: FRAXF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.136 | FRAXF | Bryony Thompson Marked STR: FRAXF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.136 | FRAXF | Bryony Thompson Str: fraxf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.136 | FRAXF |
Bryony Thompson STR: FRAXF was added STR: FRAXF was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FRAXF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for STR: FRAXF were set to 7874164; 10094554; 8651274 Phenotypes for STR: FRAXF were set to Intellectual disability Review for STR: FRAXF was set to RED Added comment: FRAXF is a folate-sensitive fragile site, where expansion was identified in a male with developmental delay. However, further studies found that expression of the fragile site through expansion is not associated with a disease phenotype. Sources: Literature |
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