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| Mendeliome v2.580 | FAM193B_OPDM_CGG | Zornitza Stark Marked STR: FAM193B_OPDM_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.580 | FAM193B_OPDM_CGG | Zornitza Stark Str: fam193b_opdm_cgg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.580 | Zornitza Stark Copied STR FAM193B_OPDM_CGG from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.580 | FAM193B_OPDM_CGG |
Zornitza Stark STR: FAM193B_OPDM_CGG was added STR: FAM193B_OPDM_CGG was added to Mendeliome. Sources: Expert Review Red,Literature Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781 Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193 |
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| Mendeliome v2.579 | Zornitza Stark Copied STR FAM193B_OPDM_CGG from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.579 | FAM193B_OPDM_CGG |
Zornitza Stark STR: FAM193B_OPDM_CGG was added STR: FAM193B_OPDM_CGG was added to Mendeliome. Sources: Expert Review Red,Literature Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781 Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193 |
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