Publications:

New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One

Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D

Publication Date: 2022

Variant appearance in text: MSH2: 942+27_942+29del

PubMed Link: 36155654

Variant Present in the following documents:

• pone.0275121.s002.xlsx, sheet 11

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MSH2: 942+27_942+29del

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Bmc Medical Genetics

Fan, Qi Q; Li, Dan D; Cai, Lei L; Qiu, Xiaodi X; Zhao, Zhennan Z; Wu, Jihong J; Yang, Jin J; Lu, Yi Y

Publication Date: 2019-03-20

Variant appearance in text: MSH2: 942+3_942+5del

PubMed Link: 30894134

Variant Present in the following documents:

• 12881_2019_782_MOESM1_ESM.xlsx, sheet 1

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: MSH2: 942+27_942+29del

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

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Lynch syndrome-related small intestinal adenocarcinomas.

Oncotarget

Jun, Sun-Young SY; Lee, Eui-Jin EJ; Kim, Mi-Ju MJ; Chun, Sung Min SM; Bae, Young Kyung YK; Hong, Soon Uk SU; Choi, Jene J; Kim, Joon Mee JM; Jang, Kee-Taek KT; Kim, Jung Yeon JY; Kim, Gwang Il GI; Jung, Soo Jin SJ; Yoon, Ghilsuk G; Hong, Seung-Mo SM

Publication Date: 2017-03-28

Variant appearance in text: MSH2: 942+27_942+29del

PubMed Link: 28206961

Variant Present in the following documents:

• Main text
• oncotarget-08-21483.pdf

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