Publications:

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: MSH2: G71R

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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A Multiple Primary Malignancy Patient With FANCA Gene Mutation: A Case Report and Literature Review.

Frontiers In Oncology

Xia, Qing Q; Zhao, Ling-Yi LY; Yan, Yi-Dan YD; Liao, Yuan Y; Di, Ying-San YS; Xiao, Xiu-Ying XY

Publication Date: 2020

Variant appearance in text: MSH-2: 211G>A

PubMed Link: 32850347

Variant Present in the following documents:

• Main text

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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine

Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M

Publication Date: 2020-06-10

Variant appearance in text: MSH2: 211G>A; Gly71Arg

PubMed Link: 32522261

Variant Present in the following documents:

• 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1

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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: MSH2: G71R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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