Publications:

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

Scientific Reports

Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D

Publication Date: 2023-02-07

Variant appearance in text: APP: S750C

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 11

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APP: S750C; rs1437503550

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Structural studies of the transmembrane C-terminal domain of the amyloid precursor protein (APP): does APP function as a cholesterol sensor?

Biochemistry

Beel, Andrew J AJ; Mobley, Charles K CK; Kim, Hak Jun HJ; Tian, Fang F; Hadziselimovic, Arina A; Jap, Bing B; Prestegard, James H JH; Sanders, Charles R CR

Publication Date: 2008-09-09

Variant appearance in text: APP: S750C

PubMed Link: 18702528

Variant Present in the following documents:

• Main text

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