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Mutation

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle, A. S. Thomas, [ ... ], D. A. Hughes

Dominant serotype distribution and antimicrobial resistance profile of Shigella spp. in Xinjiang, China

Hongbo Liu, Binghua Zhu, [ ... ], Hongbin Song

Active BRAF-V600E is the key player in generation of a sessile serrated polyp-specific DNA methylation profile

Somaye Dehghanizadeh, Vahid Khoddami, [ ... ], David A. Jones

The combination of NAD⁺-dependent deacetylase gene deletion and the interruption of gluconeogenesis causes increased glucose metabolism in budding yeast

Hiroshi Masumoto, Shigeru Matsuyama

Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors

Antonio Pannuti, Aleksandra Filipovic, [ ... ], Lucio Miele

Improving the efficiency of homologous recombination by chemical and biological approaches in Yarrowia lipolytica

In-Seung Jang, Byung Jo Yu, [ ... ], Ju Young Lee

Rats deficient C-type natriuretic peptide suffer from impaired skeletal growth without early death

Toshihito Fujii, Keisho Hirota, [ ... ], Kazuwa Nakao

Integrated optimization of unmanned aerial vehicle task allocation and path planning under steady wind

He Luo, Zhengzheng Liang, [ ... ], Guoqiang Wang

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, [ ... ], Shin-ichi Usami

Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes

Changshin Kim, Jinmo Yang, [ ... ], KyuBum Kwack

Distribution path robust optimization of electric vehicle with multiple distribution centers

Changxi Ma, Wei Hao, [ ... ], Ruiqi Xiong

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, [ ... ], Yufei Shi

Crystal structures of PCNA mutant proteins defective in gene silencing suggest a novel interaction site on the front face of the PCNA ring

Christine M. Kondratick, Jacob M. Litman, [ ... ], Lynne M. Dieckman

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