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: LRRK2: S1443A; rs763128299

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Parkinson-related LRRK2 mutation R1441C/G/H impairs PKA phosphorylation of LRRK2 and disrupts its interaction with 14-3-3.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Muda, Kathrin K; Bertinetti, Daniela D; Gesellchen, Frank F; Hermann, Jennifer Sarah JS; von Zweydorf, Felix F; Geerlof, Arie A; Jacob, Anette A; Ueffing, Marius M; Gloeckner, Christian Johannes CJ; Herberg, Friedrich W FW

Publication Date: 2014-01-07

Variant appearance in text: LRRK2: S1443A

PubMed Link: 24351927

Variant Present in the following documents:

• Main text

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