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Mutation databases

Identification of Functional SNPs in BARD1 Gene and In Silico Analysis of Damaging SNPs: Based on Data Procured from dbSNP Database

Ali A. Alshatwi, Tarique N. Hasan, [ ... ], B. Leena Grace

Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors

Guy Froyen, An Broekmans, [ ... ], Brigitte Maes

Structural and Functional Analysis of Human SOD1 in Amyotrophic Lateral Sclerosis

Lorenna Giannini Alves Moreira, Livia Costa Pereira, Priscila Ramalho Drummond, Joelma Freire De Mesquita

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Yilu Wang, Zhimin Wang, [ ... ], Lei Song

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, [ ... ], Mato Nagel

DBGC: A Database of Human Gastric Cancer

Chao Wang, Jun Zhang, [ ... ], Xiaoyan Zhang

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease

Rhiannon E. Lloyd, John E. McGeehan

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie-Pierre Dubé, [ ... ], Mark Samuels

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, [ ... ], Yun Yang

Genetic diversity of SARS-CoV-2 and clinical, epidemiological characteristics of COVID-19 patients in Hanoi, Vietnam

Tam Thi Nguyen, Thach Ngoc Pham, [ ... ], on behalf of the OUCRU COVID-19 Research Group

Detection of Resistance Mutations to Antivirals Oseltamivir and Zanamivir in Avian Influenza A Viruses Isolated from Wild Birds

Goran Orozovic, Kanita Orozovic, Johan Lennerstrand, Björn Olsen

Mutation Analysis of BRCA1, BRCA2, PALB2 and BRD7 in a Hospital-Based Series of German Patients with Triple-Negative Breast Cancer

Franziska Pern, Natalia Bogdanova, [ ... ], Thilo Dörk

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