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Point mutation

Structural basis for matriglycan synthesis by the LARGE1 dual glycosyltransferase

Michael Katz, Ron Diskin

Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy

Kristy Iskandar, Agung Triono, [ ... ], Gunadi

Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana

Eric A. Mensah, Bismark Sarfo, [ ... ], Augustine Ocloo

Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer

Yock Ping Chow, Norziha Zainul Abidin, [ ... ], Chieh Lee Wong

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

Development of E-ice-COLD-PCR assay combined with HRM analysis for Nucleophosmin1 gene mutation detection in acute myelogenous leukemia

Rattana Kongta, Noppamas Panyasit, Wuttichote Jansaento, Suwit Duangmano

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

Kate Megquier, Jason Turner-Maier, [ ... ], Heather L. Gardner

Drug susceptibility profiling and genetic determinants of drug resistance in Mycobacterium simiae isolates obtained from regional tuberculosis reference laboratories of Iran

Sara Daneshfar, Azar Dokht Khosravi, Mohammad Hashemzadeh

The prevalence of molecular markers of resistance to sulfadoxine-pyrimethamine among pregnant women at first antenatal clinic attendance and delivery in the forest-savannah area of Ghana

David Kwame Dosoo, Jeffrey A. Bailey, [ ... ], Daniel Chandramohan

Genomic surveillance, evolution and global transmission of SARS-CoV-2 during 2019–2022

Nadim Sharif, Khalid J. Alzahrani, [ ... ], Shuvra Kanti Dey

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

Tomoko Honda, Norihito Kawasaki, [ ... ], Kazuo Yamamoto

Genomic landscapes of canine splenic angiosarcoma (hemangiosarcoma) contain extensive heterogeneity within and between patients

Shukmei Wong, E. J. Ehrhart, [ ... ], William P. D. Hendricks

Effects of carbon ion beam-induced mutagenesis for the screening of RED production-deficient mutants of Streptomyces coelicolor JCM4020

Masaomi Yanagisawa, Shumpei Asamizu, [ ... ], Hiroyasu Onaka

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