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: CFTR: E474Q; rs756206533

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs756206533

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: E474Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair.

Peerj

Remali, Juwairiah J; Aizat, Wan Mohd WM; Ng, Chyan Leong CL; Lim, Yi Chieh YC; Mohamed-Hussein, Zeti-Azura ZA; Fazry, Shazrul S

Publication Date: 2020

Variant appearance in text: CFTR: E474Q

PubMed Link: 32509463

Variant Present in the following documents:

• Main text
• peerj-08-9197.pdf

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Flexible-to-rigid transition is central for substrate transport in the ABC transporter BmrA from Bacillus subtilis.

Communications Biology

Lacabanne, Denis D; Orelle, Cédric C; Lecoq, Lauriane L; Kunert, Britta B; Chuilon, Claire C; Wiegand, Thomas T; Ravaud, Stéphanie S; Jault, Jean-Michel JM; Meier, Beat H BH; Böckmann, Anja A

Publication Date: 2019

Variant appearance in text: CFTR: E474Q

PubMed Link: 31044174

Variant Present in the following documents:

• Main text

View BVdb publication page