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: DMD: S175G; rs1326333403

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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mGreenLantern: a bright monomeric fluorescent protein with rapid expression and cell filling properties for neuronal imaging.

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

Campbell, Benjamin C BC; Nabel, Elisa M EM; Murdock, Mitchell H MH; Lao-Peregrin, Cristina C; Tsoulfas, Pantelis P; Blackmore, Murray G MG; Lee, Francis S FS; Liston, Conor C; Morishita, Hirofumi H; Petsko, Gregory A GA

Publication Date: 2020-12-01

Variant appearance in text: DMD: S175G

PubMed Link: 33208539

Variant Present in the following documents:

• pnas.2000942117.sapp.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: DMD: S175G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page