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| Ophthalmological ciliopathies v0.1 | RPGRIP1 |
Ivone Leong gene: RPGRIP1 was added gene: RPGRIP1 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Orphanet,Expert Review Red Mode of inheritance for gene: RPGRIP1 was set to Phenotypes for gene: RPGRIP1 were set to Meckel syndrome; Ciliopathies |
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| Ophthalmological ciliopathies v0.1 | RPGR |
Ivone Leong gene: RPGR was added gene: RPGR was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert list,Expert Review Red 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) |
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| Ophthalmological ciliopathies v0.1 | RPGRIP1L |
Ivone Leong gene: RPGRIP1L was added gene: RPGRIP1L was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260 Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome |
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