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Frameshift mutation

A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model

Shinichi Chisada, Kouki Ohtsuka, Masachika Fujiwara, Masao Yoshida, Satsuki Matsushima, Takashi Watanabe, Kanae Karita, Hiroaki Ohnishi

published 25 Apr 2023

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Timed hazard networks: Incorporating temporal difference for oncogenetic analysis

Jian Chen

published 16 Mar 2023

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The clinical characteristics of pediatric patients infected by SARS-CoV-2 Omicron variant and whole viral genome sequencing analysis

Hin Fung Tsang, Allen Chi Shing Yu, Aldrin Kay Yuen Yim, Nana Jin, Yu On Wu, Hennie Yuk Lin Cheng, WL Cheung, Wai Ming Stanley Leung, Ka Wai Lam, Tin Nok Hung, Loiston Chan, Jiachi Chiou, Xiao Meng Pei, On Ying Angela Lee, William Chi Shing Cho, Sze Chuen Cesar Wong

published 10 Mar 2023

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Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn ^R493X mouse model of frontotemporal dementia

Denise M. Smith, Michael L. Niehoff, Karen Ling, Paymaan Jafar-Nejad, Frank Rigo, Susan A. Farr, Miles F. Wilkinson, Andrew D. Nguyen

published 09 Mar 2023

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Using canavanine resistance to measure mutation rates in Schizosaccharomyces pombe

Chen-Chun Pai, Ellen Heitzer, Sibyl Bertrand, Sophia Toumazou, Timothy C. Humphrey, Stephen E. Kearsey

published 10 Jan 2023

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Genomic landscape of alpha-variant of SARS-CoV-2 circulated in Pakistan

Nazia Fiaz, Imran Zahoor, Saima Saima, Atia Basheer

published 13 Dec 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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The genomic landscape of canine osteosarcoma cell lines reveals conserved structural complexity and pathway alterations

Kate Megquier, Jason Turner-Maier, Kathleen Morrill, Xue Li, Jeremy Johnson, Elinor K. Karlsson, Cheryl A. London, Heather L. Gardner

published 13 Sep 2022

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Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor

published 29 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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Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer

Vania Myralda Giamour Marbun, Linda Erlina, Toar Jean Maurice Lalisang

published 16 Jun 2022

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CRISPR/Cas9-mediated targeted mutagenesis of GmTCP19L increasing susceptibility to Phytophthora sojae in soybean

Sujie Fan, Zhuo Zhang, Yang Song, Jun Zhang, Piwu Wang

published 09 Jun 2022

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