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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | OFD1 |
Bryony Thompson gene: OFD1 was added gene: OFD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OFD1 were set to 28191358; 22619378; 29843741 Phenotypes for gene: OFD1 were set to Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804; Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 |
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