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Deletion 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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Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand

Supat Chamnanchanunt, Beatriz Aira C. Jacob, Vipa Thanachartwet, Varunee Desakorn, Natsamon Singha-art, Duangjai Sahassananda, Kamonwan Chamchoy, Naveen Eugene Louis, Muawiaa Ahmed Hamza, Nurriza Ab Latif, Syazwani Itri Amran, Henry A. F. Stephens, Wang Nguitragool, Usa Boonyuen

published 18 Sep 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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Men in menopause? Experimental verification of the mate choice theory with Drosophila melanogaster shows both sexes can undergo menopause

Divya Purohith, Mitali Chaudhary, Alyssa Gomes, Nina Rajapakse, Aditi Das, Neha Dhanvanthry, Michelle Brown, Manan Mukherjee, Rama S. Singh

published 03 Jul 2025

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Saturated Transposon Analysis in Yeast as a one-step method to quantify the fitness effects of gene disruptions on a genome-wide scale

Enzo Kingma, Floor Dolsma, Leila Iñigo de la Cruz, Liedewij Laan

published 06 Feb 2025

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The RNA-binding protein Puf5 and the HMGB protein Ixr1 regulate cell cycle-specific expression of CLB1 and CLB2 in Saccharomyces cerevisiae

Megumi Sato, Varsha Rana, Yasuyuki Suda, Tomoaki Mizuno, Kenji Irie

published 03 Feb 2025

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Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families

Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams, Zehra Agha

published 08 Jan 2025

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Low prevalence of Plasmodium falciparum histidine-rich protein 2 and 3 gene deletions in malaria-endemic states of India

Sri Krishna, Shrikant Nema, Ruchika Sangle, Amreen Ahmad, Akansha Singh, Devendra Kumar, Anil K. Verma, Venkatachalam Udhayakumar, Aparup Das, Anup R. Anvikar, Praveen K. Bharti

published 18 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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Development of a lambda Red based system for gene deletion in Chlamydia

Yibing Wang, Robert Suchland, Amy Hua, Steven Carrell, Daniel Rockey, Kevin Hybiske

published 14 Nov 2024

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Clinical and molecular characteristics associated with high PD-L1 expression in EGFR-mutated lung adenocarcinoma

Jeremy Slomka, Hugo Berthou, Audrey Mansuet-Lupo, Hélène Blons, Elizabeth Fabre, Ivan Lerner, Bastien Rance, Marco Alifano, Jeanne Chapron, Gary Birsen, Laure Gibault, Jennifer Arrondeau, Karen Leroy, Marie Wislez

published 07 Nov 2024

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Effects of selection stringency on the outcomes of directed evolution

Berk A. Alpay, Michael M. Desai

published 14 Oct 2024

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Optimising primary molecular profiling in non-small cell lung cancer

R. D. Schouten, I. Schouten, M. M. F. Schuurbiers, V. van der Noort, R. A. M. Damhuis, E. H. F. M. van der Heijden, J. A. Burgers, N. P. Barlo, A. S. R. van Lindert, K. W. Maas, J. J. G. van den Brand, A. A. J. Smit, J. M. W. van Haarst, B. van der Maat, E. Schuuring, H. Blaauwgeers, S. M. Willems, K. Monkhorst, D. van den Broek, M. M. van den Heuvel

published 31 Jul 2024

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