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: SI: T21A; rs199693015

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Next-generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus.

Biomedical Reports

Alwehaidah, Materah Salem MS; Al-Kafaji, Ghada G; Bakhiet, Moiz M; Alfadhli, Suad S

Publication Date: 2021-05

Variant appearance in text: SI: Thr21Ala

PubMed Link: 33728047

Variant Present in the following documents:

• Main text

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Mimicking Ndc80 phosphorylation triggers spindle assembly checkpoint signalling.

The Embo Journal

Kemmler, Stefan S; Stach, Manuel M; Knapp, Maria M; Ortiz, Jennifer J; Pfannstiel, Jens J; Ruppert, Thomas T; Lechner, Johannes J

Publication Date: 2009-04-22

Variant appearance in text: SI: T21A

PubMed Link: 19300438

Variant Present in the following documents:

• Main text

View BVdb publication page