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Deletion mutation

Tumor Necrosis Factor-α and Lymphotoxin-α Mediate Myocardial Ischemic Injury via TNF Receptor 1, but Are Cardioprotective When Activating TNF Receptor 2

Yanqing Zhang, Jianli Zhao, [ ... ], Yajing Wang

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

Ivana Babić Božović, Aleš Maver, [ ... ], Borut Peterlin

TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, [ ... ], Murali Dharan Bashyam

Frequent Loss and Alteration of the MOXD2 Gene in Catarrhines and Whales: A Possible Connection with the Evolution of Olfaction

Dong Seon Kim, Yao Wang, [ ... ], Yoonsoo Hahn

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, [ ... ], Qiuju Wang

Development of a markerless gene deletion strategy using rpsL as a counterselectable marker and characterization of the function of RA0C_1534 in Riemerella anatipestifer ATCC11845 using this strategy

MaFeng Liu, Xiu Tian, [ ... ], AnChun Cheng

Beyond disease-progression: Clinical outcomes after EGFR-TKIs in a cohort of EGFR mutated NSCLC patients

Roxana Alina Tudor, Adrijana D'Silva, [ ... ], Dafydd Gwyn Bebb

Risk Factors and Post-Resection Independent Predictive Score for the Recurrence of Hepatitis B-Related Hepatocellular Carcinoma

Ivan Fan-Ngai Hung, Danny Ka-Ho Wong, [ ... ], Man-Fung Yuen

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Shuang Liu, Weimin Zhang, [ ... ], Zhengqing Qiu

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

Blast vacuolization in AML patients indicates adverse-risk AML and is associated with impaired survival after intensive induction chemotherapy

Olivier Ballo, Jan Stratmann, [ ... ], Christian Brandts

Acidic Amino Acids in the First Intracellular Loop Contribute to Voltage- and Calcium- Dependent Gating of Anoctamin1/TMEM16A

Qinghuan Xiao, Yuanyuan Cui

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K_ATP Gain of Channel Activity and Loss of Channel Expression

Yu-Wen Lin, Anlong Li, [ ... ], Colin G. Nichols

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