Publications:

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: HP: 310G>A

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: HP: 310G>A; E104K

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics

Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P

Publication Date: 2021-02

Variant appearance in text: HP: E104K

PubMed Link: 33222100

Variant Present in the following documents:

• 13353_2020_594_MOESM2_ESM.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: HP: E104K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Acquisition of Extended-Spectrum β-Lactamase GES-6 Leading to Resistance to Ceftolozane-Tazobactam Combination in Pseudomonas aeruginosa.

Antimicrobial Agents And Chemotherapy

Poirel, Laurent L; Ortiz De La Rosa, José-Manuel JM; Kieffer, Nicolas N; Dubois, Véronique V; Jayol, Aurélie A; Nordmann, Patrice P

Publication Date: 2019-01

Variant appearance in text: HP: Glu104Lys

PubMed Link: 30323045

Variant Present in the following documents:

• Main text

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: HP: E104K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: HP: E104K

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Antibiotic-resistant soil bacteria in transgenic plant fields.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Demanèche, Sandrine S; Sanguin, Hervé H; Poté, John J; Navarro, Elisabeth E; Bernillon, Dominique D; Mavingui, Patrick P; Wildi, Walter W; Vogel, Timothy M TM; Simonet, Pascal P

Publication Date: 2008-03-11

Variant appearance in text: HP: E104K

PubMed Link: 18292221

Variant Present in the following documents:

• Main text

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