Publications:

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: PSEN1: Y195C; rs200065583

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T

Publication Date: 2016-01-27

Variant appearance in text: PS1: Y195C

PubMed Link: 26818522

Variant Present in the following documents:

• Main text

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