Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.D248N
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APP

NM_000484.4:p.D248N

Associated Papers

Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Wightman DP et al.

Scientific Reports, 2023

36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

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