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Mutation detection

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Kamonwan Chamchoy, Sirapapha Sudsumrit, [ ... ], Usa Boonyuen

Antimicrobial drug resistant features of Mycobacterium tuberculosis associated with treatment failure

Fizza Mushtaq, Syed Mohsin Raza, [ ... ], Irfan Ahmad

Rapid extraction-free detection of the R132H isocitrate dehydrogenase mutation in glioma using colorimetric peptide nucleic acid-loop mediated isothermal amplification (CPNA-LAMP)

Kristian A. Choate, Edward J. Raack, [ ... ], Paul B. Mann

A novel rapid detection method for a single-nucleotide substitution mutation derived from canine urothelial and prostatic carcinoma cells present in small amounts in urine sediments

Shiro Okumura, Yoshiharu Ohsato

Mutations in microRNA-128-2-3p identified with amplification-free hybridization assay

Sofie Slott, Cecilie Schiøth Krüger-Jensen, [ ... ], Kira Astakhova

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv

Flora Alarcon, Violaine Planté-Bordeneuve, Grégory Nuel

SARS-CoV-2 spike protein diversity at an intra-host level, among SARS-CoV-2 infected individuals in South Africa, 2020 to 2022

Kathleen Subramoney, Nkhensani Mtileni, [ ... ], Florette K. Treurnicht

Temporal convolutional network for a Fast DNA mutation detection in breast cancer data

Untari Novia Wisesty, Tati Rajab Mengko, Ayu Purwarianti, Adi Pancoro

Reconsideration of importance of the point mutation L982W in the voltage-sensitive sodium channel of the pyrethroid resistant Aedes aegypti (L.)(Diptera: Culicidae) in Vietnam

Hitoshi Kawada, Yukiko Higa, Shinji Kasai

PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, [ ... ], Soumaya Rammeh

Diagnostic performance of the GenoType MTBDRplus VER 2.0 line probe assay for the detection of isoniazid resistant Mycobacterium tuberculosis in Ethiopia

Shewki Moga, Kidist Bobosha, [ ... ], Tamrat Abebe

Rapid genomic surveillance of SARS-CoV-2 in a dense urban community of Kathmandu Valley using sewage samples

Rajindra Napit, Prajwol Manandhar, [ ... ], Dibesh B. Karmacharya

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