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Mutation

The role of NPM1 alternative splicing in patients with chronic lymphocytic leukemia

Monika Szelest, Marta Masternak, [ ... ], Krzysztof Giannopoulos

Evaluation of a library of loxP variants with a wide range of recombination efficiencies by Cre

Yuji Yamauchi, Hidenori Matsukura, [ ... ], Wataru Aoki

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

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

Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis

Gergő Berke, Noémi Gede, [ ... ], Eszter Hegyi

Mitochondrial DNA population variation is not associated with Alzheimer’s in the Japanese population: A consistent finding across global populations

Johanna Wong, Jannetta S. Steyn, Ilse S. Pienaar, Joanna L. Elson

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

A new Desmodesmus sp. from the Tibetan Yamdrok Lake

Jinhu Wang, Qiangying Zhang, [ ... ], Duo Bu

A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) variants of concern

Randi Jessen, Line Nielsen, [ ... ], Katja Spiess

Phylodynamics of a regional SARS-CoV-2 rapid spreading event in Colorado in late 2020

Kristen J. Wade, Samantha Tisa, [ ... ], Olivia S. Rissland

Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, [ ... ], Lisa M. Frenkel

New methodology of TMB assessment from tissue and liquid biopsy in NSCLC

Ľudmila Křížová, Markéta Šafaříková, [ ... ], David Feltl

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Luisa Sophie Rajcsanyi, Yiran Zheng, [ ... ], Anke Hinney

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

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