Publications:

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MLH1: 301G>T; G101C

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: MLH1: 301G>T; G101C

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: MLH1: 301G>T; Gly101Trp

PubMed Link: 32090079

Variant Present in the following documents:

• BMRI2020-3289023.pdf

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Assessment of functional effects of unclassified genetic variants.

Human Mutation

Couch, Fergus J FJ; Rasmussen, Lene Juel LJ; Hofstra, Robert R; Monteiro, Alvaro N A AN; Greenblatt, Marc S MS; de Wind, Niels N; ,

Publication Date: 2008-11

Variant appearance in text: MLH1: 301G>T; G101W

PubMed Link: 18951449

Variant Present in the following documents:

• Main text

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