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: APOB: S1969R; rs749480622

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs749480622

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

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Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.

Journal Of Medical Genetics

Di Leo, Enza E; Magnolo, Lucia L; Lancellotti, Sandra S; Crocè, Lory L; Visintin, Luca L; Tiribelli, Claudio C; Bertolini, Stefano S; Calandra, Sebastiano S; Tarugi, Patrizia P

Publication Date: 2007-03

Variant appearance in text:

PubMed Link: 17158591

Variant Present in the following documents:

• Main text

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