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| Leukodystrophy - paediatric v0.36 | PRF1 |
Bryony Thompson gene: PRF1 was added gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 23443029; 21959744 Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553 Review for gene: PRF1 was set to RED Added comment: Leukodystrophy does not appear to be a prominent feature of the condition Sources: Expert list |
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