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| Miscellaneous Metabolic Disorders v0.270 | RPIA | Zornitza Stark Marked gene: RPIA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.270 | RPIA | Zornitza Stark Gene: rpia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.270 | RPIA | Zornitza Stark Classified gene: RPIA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.270 | RPIA | Zornitza Stark Gene: rpia has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.269 | RPIA |
Zornitza Stark gene: RPIA was added gene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 14988808; 31056085; 31247379 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy Review for gene: RPIA was set to GREEN Added comment: Three unrelated families reported. Sources: Expert list |
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