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Frameshift mutation

Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

Torin Abdulaziz Sadoon, Hemin Esmael Othman

published 07 Nov 2025

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A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng

published 24 Oct 2025

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Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

Cristina Pastorino, Ludovica Menta, Emanuela Pesce, Mariateresa Lena, Valeria Tomati, Valeria Capurro, Marco Di Duca, Vito Terlizzi, Andrea Gramegna, Francesco Blasi, Carlo Castellani, Serena Cappato, Federico Zara, Nicoletta Pedemonte, Renata Bocciardi

published 16 Sep 2025

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CRISPR-Cas9 targeting the bla_KPC gene in a clinical isolate of Klebsiella michiganensis: Reduction of imipenem resistance and changes in genomic carbapenem resistance determinants

Thaysa Leite Tagliaferri, Alex Krüttgen, Tiago Antônio de Oliveira Mendes, Simone Gonçalves dos Santos, Hans-Peter Horz

published 12 Aug 2025

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Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

Jahangir Khan Tareen, Hamid Khan, Shamsul Ghani, Saeed Khan, Bakhtawar Khan, Yurong Wu, Muhammad Ajmal Khan, Syed Shahab Ud Din Shah, Abrar Hussain, Mubin Mustafa Kiyani, Shahid Bashir, Atta Ur Rehman, Muhammad Imran Shabbir, Hong-Tao Li

published 30 Jul 2025

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Linking genetic and phenotypic bedaquiline resistance in Mycobacterium tuberculosis strains from Georgia

Nino Maghradze, Chloé Loiseau, Galo Adrian Goig, Nino Bablishvili, Levan Jugheli, Sonia Borrell, Nestani Tukvadze, Russell Ryan Kempker, Zaza Avaliani, Sebastien Gagneux

published 15 Jul 2025

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Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta

Nazlee Sharmin, Jerald Yuan, Ava K. Chow

published 26 Jun 2025

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Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

Siti Nur Idayu Matusin, Nuramalina Mumin, Hazirah Zainal Abidin, Fatin Nurizzati Mohd Jaya, Zen Huat Lu, Mas Rina Wati Haji Abdul Hamid

published 18 Jun 2025

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Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis

Hajin Jeon, Jong Lyul Lee, Hyeran Shim, Soobok Joe, Iksu Byeon, Chan Wook Kim, Seok-Byung Lim, In Ja Park, Yong Sik Yoon, Hoang Bao Khanh Chu, Young-Joon Kim, Chang Sik Yu, Jin Ok Yang

published 23 May 2025

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The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies

Ashraf Attia Mahmoud, Mohd Firdaus Raih, Edison Eukun Sage, Qurashi M. Ali, Omnia H. Suliman, Sabah A. E. Ibrahim, Osama Mohamed, Samar Abdelrazeg, Sofia B. Mohamed

published 07 May 2025

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Systematic identification and characterization of high efficiency Cas9 guide RNAs for therapeutic targeting of ADAR

Benjamin G. Gowen, Kory Melton, Weng In Leong, Prachi Khekare, Shannon McCawley, Jean Chan, Pierre Boivin, Vihasi Jani, Aaron J. Cantor, Akshay Tambe, Mary Haak-Frendscho, Mary J. Janatpour, Spencer C. Wei

published 24 Feb 2025

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ATM-deficient murine thymic T-cell lymphoblastic lymphomas are PTEN-deficient and require AKT signaling for survival

Joseph B. An, Karen S. Hathcock, Seth M. Steinberg, Hyoyoung M. Choo-Wosoba, Richard J. Hodes

published 05 Dec 2024

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Acquired resistance of Stenotrophomonas maltophilia to antimicrobials induced by herbicide paraquat dichloride

Veerakit Vanitshavit, Nisanart Charoenlap, Ratiboot Sallabhan, Wirongrong Whangsuk, Kisana Bhinija, Punyawee Dulyayangkul, Skorn Mongkolsuk, Paiboon Vattanavibooon

published 28 Aug 2024

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