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| Cone-rod Dystrophy v0.0 | RPGRIP1 |
Bryony Thompson gene: RPGRIP1 was added gene: RPGRIP1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1 were set to 30679166 Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 |
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| Cone-rod Dystrophy v0.0 | RPGR |
Bryony Thompson gene: RPGR was added gene: RPGR was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPGR were set to 30679166 Phenotypes for gene: RPGR were set to Cone-rod dystrophy, X-linked, 1, 304020 |
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