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| Ophthalmological ciliopathies v0.1 | TMEM67 |
Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Ophthalmological ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 20607301; 17160906; 18327255; 19058225; 19508969; 16415887 Phenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360 |
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