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Mutation

The role of NPM1 alternative splicing in patients with chronic lymphocytic leukemia

Monika Szelest, Marta Masternak, Małgorzata Zając, Michał Chojnacki, Katarzyna Skórka, Joanna Zaleska, Agnieszka Karczmarczyk, Grażyna Stasiak, Ewa Wawrzyniak, Aleksandra Kotkowska, Monika Siemieniuk-Ryś, Joanna Purkot, Edyta Subocz, Edyta Cichocka, Waldemar Tomczak, Daria Zawirska, Krzysztof Giannopoulos

published 25 Oct 2022

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Evaluation of a library of loxP variants with a wide range of recombination efficiencies by Cre

Yuji Yamauchi, Hidenori Matsukura, Keisuke Motone, Mitsuyoshi Ueda, Wataru Aoki

published 21 Oct 2022

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Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana

Eric A. Mensah, Bismark Sarfo, Alfred E. Yawson, Joshua Arthur, Augustine Ocloo

published 20 Oct 2022

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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis

Gergő Berke, Noémi Gede, Letícia Szadai, Klementina Ocskay, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi

published 20 Oct 2022

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Mitochondrial DNA population variation is not associated with Alzheimer’s in the Japanese population: A consistent finding across global populations

Johanna Wong, Jannetta S. Steyn, Ilse S. Pienaar, Joanna L. Elson

published 20 Oct 2022

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Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer

Yock Ping Chow, Norziha Zainul Abidin, Ken Siong Kow, Lye Mun Tho, Chieh Lee Wong

published 18 Oct 2022

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A new Desmodesmus sp. from the Tibetan Yamdrok Lake

Jinhu Wang, Qiangying Zhang, Naijiang Chen, Junyu Chen, Jinna Zhou, Jing Li, Yanli Wei, Duo Bu

published 07 Oct 2022

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A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern

Randi Jessen, Line Nielsen, Nicolai Balle Larsen, Arieh Sierra Cohen, Vithiagaran Gunalan, Ellinor Marving, Alonzo Alfaro-Núñez, Charlotta Polacek, The Danish COVID-19 Genome Consortium (DCGC) , Anders Fomsgaard, Katja Spiess

published 05 Oct 2022

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Phylodynamics of a regional SARS-CoV-2 rapid spreading event in Colorado in late 2020

Kristen J. Wade, Samantha Tisa, Chloe Barrington, Jesslyn C. Henriksen, Kristy R. Crooks, Christopher R. Gignoux, Austin T. Almand, J. Jordan Steel, John C. Sitko, Joseph W. Rohrer, Douglas P. Wickert, Erin A. Almand, David D. Pollock, Olivia S. Rissland

published 04 Oct 2022

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Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, Sheila M. Styrchak, Samantha R. Hardy, Jackson J. Wallner, Ross S. Milne, R. Leavitt Morrison, David E. Shapiro, Esaú C. João, Mark H. Mirochnick, Lisa M. Frenkel

published 27 Sep 2022

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

Ľudmila Křížová, Markéta Šafaříková, Marta Kalousová, Lucie Pfeiferová, Aleš Antonín Kuběna, Michal Vočka, Jan Ulrych, Věra Franková, Luboš Petruželka, Tomáš Zima, David Feltl

published 26 Sep 2022

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Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney

published 19 Sep 2022

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Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers

Abdulaziz B. Hamid, Lauren E. Frank, Renee A. Bouley, Ruben C. Petreaca

published 15 Sep 2022

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