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Insertion mutation

Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

CRISPR/Cas9-Mediated genomic knock out of tyrosine hydroxylase and yellow genes in cricket Gryllus bimaculatus

Yun Bai, Yuan He, [ ... ], Zhu-Qing He

Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy

Keiko Miyadera, Ian Brierley, [ ... ], David R. Sargan

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Kinga M. Bujakowska, Joseph White, [ ... ], Jason Comander

The zebrafish orthologue of familial Alzheimer’s disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation

Haowei Jiang, Morgan Newman, Michael Lardelli

Phenotypes of Campylobacter jejuni luxS Mutants Are Depending on Strain Background, Kind of Mutation and Experimental Conditions

Linda Adler, Thomas Alter, Soroush Sharbati, Greta Gölz

Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

Thomas Koed Doktor, Lisbeth Dahl Schrøder, [ ... ], Brage Storstein Andresen

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

Fang Lu, Lulin Huang, [ ... ], Zhenglin Yang

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

Pedro Garrido-Rodríguez, Miguel Carmena-Bargueño, [ ... ], Javier Corral

Ultra-Deep Pyrosequencing of Partial Surface Protein Genes from Infectious Salmon Anaemia Virus (ISAV) Suggest Novel Mechanisms Involved in Transition to Virulence

Turhan Markussen, Hilde Sindre, [ ... ], Knut Falk

Prevalence and Clinicopathological Characteristics of HER2 and BRAF Mutation in Chinese Patients with Lung Adenocarcinoma

Ling Shan, Tian Qiu, [ ... ], Jianming Ying

Alterations in HIV-1 gp120 V3 Region Are Necessary but Not Sufficient for Coreceptor Switching in CRF07_BC in China

Lei Zhang, Liying Ma, [ ... ], Yiming Shao

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