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| Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.64 | PPIA |
Zornitza Stark gene: PPIA was added gene: PPIA was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPIA were set to 34972208 Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976 Review for gene: PPIA was set to RED Added comment: Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function. Sources: Literature |
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