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Mutation detection

Development of E-ice-COLD-PCR assay combined with HRM analysis for Nucleophosmin1 gene mutation detection in acute myelogenous leukemia

Rattana Kongta, Noppamas Panyasit, Wuttichote Jansaento, Suwit Duangmano

published 14 Sep 2022

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Minimum inhibitory concentrations of rifampin and isoniazid among multidrug and isoniazid resistant Mycobacterium tuberculosis in Ethiopia

Muluwork Getahun, Henry M. Blumberg, Gobena Ameni, Dereje Beyene, Russell R. Kempker

published 13 Sep 2022

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Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants

Weronika Przybyła, Kirsti Marie Gjersvoll Paulsen, Charitra Kumar Mishra, Ståle Nygård, Solveig Engebretsen, Ellen Ruud, Gunhild Trøen, Klaus Beiske, Lars Oliver Baumbusch

published 29 Aug 2022

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Mutations in the TERC template sequence can be incorporated into the telomeres of human tumors

Radwa Sharaf, Garrett M. Frampton, Lee A. Albacker

published 25 Aug 2022

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Prediction of drug resistance by Sanger sequencing of Mycobacterium tuberculosis complex strains isolated from multidrug resistant tuberculosis suspect patients in Ethiopia

Eyob Abera Mesfin, Matthias Merker, Dereje Beyene, Abreham Tesfaye, Yassir Adam Shuaib, Desalegn Addise, Belay Tessema, Stefan Niemann

published 05 Aug 2022

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Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii

published 21 Jul 2022

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Spread of endemic SARS-CoV-2 lineages in Russia before April 2021

Galya V. Klink, Ksenia R. Safina, Sofya K. Garushyants, Mikhail Moldovan, Elena Nabieva, Andrey B. Komissarov, Dmitry Lioznov, Georgii A. Bazykin, The CoRGI (Coronavirus Russian Genetic Initiative) Consortium

published 20 Jul 2022

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Evaluation of a commercial SARS-CoV-2 multiplex PCR genotyping assay for variant identification in resource-scarce settings

Chijioke N. Umunnakwe, Zinhle N. Makatini, Mathapelo Maphanga, Anele Mdunyelwa, Khamusi M. Mlambo, Puseletso Manyaka, Monique Nijhuis, Annemarie Wensing, Hugo A. Tempelman

published 24 Jun 2022

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High prevalence of an alpha variant lineage with a premature stop codon in ORF7a in Iraq, winter 2020–2021

Nihad A. M. Al-Rashedi, Hussein Alburkat, Abas O. Hadi, Murad G. Munahi, Ali Jasim, Alaa Hameed, Basel Saber Oda, Kareem Moamin Lilo, Laith A. H. AlObaidi, Olli Vapalahti, Tarja Sironen, Teemu Smura

published 26 May 2022

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Analysis of temporal changes in HIV-1 CRF01_AE gag genetic variability and CD8 T-cell epitope evolution

Wardah Rafaqat, Uroosa Tariq, Nida Farooqui, Maheen Zaidi, Aanish Raees, Maaz Zuberi, Amna Batool, Syed Hani Abidi

published 10 May 2022

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Direct assessment of possible mutations in the 23S rRNA gene encoding macrolide resistance in Chlamydia trachomatis

J. M. van Niekerk, I. H. M. van Loo, M. Lucchesi, S. A. Morré, C. J. P. A. Hoebe, N. H. T. M. Dukers-Muijrers, P. F. G. Wolffs

published 10 May 2022

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The efficacy of T790M mutation testing in liquid biopsy—Real clinic data

Paweł Krawczyk, Luiza Grzycka-Kowalczyk, Justyna Błach, Katarzyna Reszka, Izabela Chmielewska, Robert Kieszko, Magdalena Wójcik-Superczyńska, Michał Szczyrek, Tomasz Jankowski, Janusz Milanowski

published 06 May 2022

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Efficacy of liquid biopsy for disease monitoring and early prediction of tumor progression in EGFR mutation-positive non-small cell lung cancer

Hsiang-Ling Ho, Yuqiu Jiang, Chi-Lu Chiang, Sylwia Karwowska, Ranga Yerram, Keerti Sharma, Sidney Scudder, Chao-Hua Chiu, Chun-Ming Tsai, John F. Palma, Abha Sharma, Teh-Ying Chou

published 28 Apr 2022

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