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Frameshift mutation

Fgf10-CRISPR mosaic mutants demonstrate the gene dose-related loss of the accessory lobe and decrease in the number of alveolar type 2 epithelial cells in mouse lung

Munenori Habuta, Akihiro Yasue, [ ... ], Hideyo Ohuchi

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis

Maria Teresa Pagliari, Andrea Cairo, [ ... ], Flora Peyvandi

Oocyte-specific Wee1-like protein kinase 2 is dispensable for fertility in mice

Kaori Nozawa, Zian Liao, [ ... ], Martin M. Matzuk

Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

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

Antimicrobial drug resistant features of Mycobacterium tuberculosis associated with treatment failure

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

Genomic landscape of alpha-variant of SARS-CoV-2 circulated in Pakistan

Nazia Fiaz, Imran Zahoor, Saima Saima, Atia Basheer

A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

A novel CD4 knockout mouse strain with a spontaneous frameshift mutation in the CD4 locus

Mathangi Janakiraman, Shin-Young Na, Gurumoorthy Krishnamoorthy

Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn’s disease and active smoking status resulting in ileal stenosis requiring surgery

Fabian Schnitzler, Matthias Friedrich, [ ... ], Stephan Brand

The clinical characteristics of pediatric patients infected by SARS-CoV-2 Omicron variant and whole viral genome sequencing analysis

Hin Fung Tsang, Allen Chi Shing Yu, [ ... ], Sze Chuen Cesar Wong

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

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

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, [ ... ], Farkhanda Manzoor

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas

Meghan L. Rudd, Nancy F. Hansen, [ ... ], Daphne W. Bell

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