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: R1102K; rs35813506

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: rs35813506

PubMed Link: 34541464

Variant Present in the following documents:

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

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: CFTR: R1102K; rs35813506

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32

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Cystic fibrosis in Sudanese children: First report of 35 cases.

Sudanese Journal Of Paediatrics

Ibrahim, Salah A SA; Fadl Elmola, Munadhil A MA; Karrar, Zain A ZA; Arabi, Ali M E AM; Abdullah, Mohamed A MA; Ali, Sulafa K SK; Elawad, Fathelrahman F; Ali, Tag Elsir A TE; Abdulrahman, Mashair B MB; Ahmed, Salma O SO; Gundi, Abelrazzag S AS

Publication Date: 2014

Variant appearance in text: CFTR: R1102K

PubMed Link: 27493388

Variant Present in the following documents:

• Main text

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A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine

George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R

Publication Date: 2008-01

Variant appearance in text: CFTR: R1102K; rs35813506

PubMed Link: 18716917

Variant Present in the following documents:

• Main text

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