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Mutation

Structural basis for matriglycan synthesis by the LARGE1 dual glycosyltransferase

Michael Katz, Ron Diskin

published 13 Dec 2022

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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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Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia

Vu Viet Ha Vuong, Thinh Huy Tran, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh-Ha Nguyen, The-Hung Bui, Thanh Van Ta, Van-Khanh Tran

published 07 Dec 2022

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Transcriptome analysis and development of EST-SSR markers in Anoectochilus emeiensis (Orchidaceae)

Song Lu

published 06 Dec 2022

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Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP)

Christopher J. Ricketts, J. Keith Killian, Cathy D. Vocke, Yonghong Wang, Maria J. Merino, Paul S. Meltzer, W. Marston Linehan

published 01 Dec 2022

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The deletion of HK-1 gene affects the bacterial virulence of Pseudomonas stutzeri LH-42

Si Shan, Tingting Hu, Yu Yang

published 29 Nov 2022

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High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

Miko Valori, Joonas Lehikoinen, Lilja Jansson, Jonna Clancy, Sofie A. Lundgren, Satu Mustjoki, Pentti Tienari

published 28 Nov 2022

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A genetic approach to identify amino acids in Gcn1 required for Gcn2 activation

Susanne Gottfried, Siaosi M. B. M. J. Koloamatangi, Clement Daube, Anja H. Schiemann, Evelyn Sattlegger

published 28 Nov 2022

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang

published 09 Nov 2022

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Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

Kristy Iskandar, Agung Triono, Sunartini, Ery Kus Dwianingsih, Braghmandita Widya Indraswari, Ignatia Rosalia Kirana, Gabriele Ivana, Retno Sutomo, Suryono Yudha Patria, Elisabeth Siti Herini, Gunadi

published 31 Oct 2022

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Remdesivir does not affect mitochondrial DNA copy number or deletion mutation frequency in aged male rats: A short report

Allen Herbst, Solbie Choi, Austin N. Hoang, Chiye Kim, Diana Martinez Moreno, Debbie McKenzie, Judd M. Aiken, Jonathan Wanagat

published 26 Oct 2022

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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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