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Mutation detection

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

Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen^® FFPE BRAF qPCR assay

Anna Lahn Sørensen, Mariann Guldmann-Christensen, [ ... ], Milo Frattini

Molecular evidence of parallel evolution in a cyanophage

Jesslyn Tjendra, Julia E. Storesund, [ ... ], Selina Våge

Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging

Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist

Selection of genotypes harbouring mutations in the cytochrome b gene of Theileria annulata is associated with resistance to buparvaquone

Selin Hacılarlıoglu, Huseyin Bilgin Bilgic, [ ... ], Tulin Karagenc

High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

Miko Valori, Joonas Lehikoinen, [ ... ], Pentti Tienari

Molecular diversity of hepatitis B virus among pregnant women in Amhara National Regional State, Ethiopia

Mulat Dagnew, Feleke Moges, [ ... ], Melanie Maier

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