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| Leukodystrophy - paediatric v0.3 | AIMP2 |
Bryony Thompson gene: AIMP2 was added gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP2 were set to 29215095 Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006 Review for gene: AIMP2 was set to RED Added comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted. Sources: Literature |
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