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Substitution mutation

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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Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities

Mohammed Ageeli Hakami, Ahad Amer Alsaiari, Taj Mohammad, Anas Shamsi

published 15 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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Evaluation of potential of targeted sequencing through mutational signature simulation

Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda

published 25 Jun 2025

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Benchmarking inverse folding models for antibody CDR sequence design

Yifan Li, Yuxiang Lang, Chenrui Xu, Yi Zhou, Ziwei Pang, Per Jr. Greisen

published 04 Jun 2025

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Binding of transmissible gastroenteritis virus and porcine respiratory coronavirus to human and porcine aminopeptidase N receptors as an indicator of cross-species transmission

Mykyta Peka, Viktor Balatsky

published 27 May 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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Genotypic drug resistance and transmission clusters of Mycobacterium tuberculosis isolates among Ethiopian returnees from Saudi Arabia

Melaku Tilahun, Abay Atnafu, Tewodros Tariku Gebresilase, Muluye Abebe, Mekdes Alemu, Sebisib Neway, Taye Letta, Abiot Bezabeh, Tamiru Assefa, Kalkidan Melaku, Dawit Hailu Alemayehu, Shewki Moga, Abaysew Ayele, Maeruf Fetu, Bethlehem Adnew, Andargachew Mulu, Liya Wassie, Kidist Bobosha

published 16 Apr 2025

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Microevolution and phylogenomic study of Respiratory Syncytial Virus type A

Ashfaq Ahmad, Sidra Majaz, Aamir Saeed, Shumaila Noreen, Muhammad Abbas, Bilal Khan, Hamid Ur Rahman, Faisal Nouroz, Yingqiu Xie, Abdur Rashid, Atta Ur Rehman

published 25 Feb 2025

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Genomic assessment of targets implicated in Rhipicephalus microplus acaricide resistance

Christina Meiring, Michel Labuschagne

published 05 Dec 2024

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Amplified DNA heterogeneity assessment with Oxford Nanopore sequencing applied to cell free expression templates

Sepehr Hejazi, Afrin Ahsan, SeyedMohammad Kashani, Denis Tameiv, Nigel F. Reuel

published 03 Dec 2024

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Complete genome sequencing of SARS-CoV-2 strains that were circulating in Uzbekistan over the course of four pandemic waves

Gulnoza Esonova, Abrorjon Abdurakhimov, Shakhnoza Ibragimova, Diyora Kurmaeva, Jakhongirbek Gulomov, Doniyor Mirazimov, Khonsuluv Sohibnazarova, Alisher Abdullaev, Shahlo Turdikulova, Dilbar Dalimova

published 19 Nov 2024

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