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Mutation databases

Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

Characteristics of HIV-1 Natural Drug Resistance-Associated Mutations in Former Paid Blood Donors in Henan Province, China

Yi Bao, Di Tian, [ ... ], Xiao-Yuan Xu

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

Ying-Xia Cui, Xin-Yi Xia, [ ... ], Xiao-Jun Li

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, [ ... ], David A. Lane

The Geogenomic Mutational Atlas of Pathogens (GoMAP) Web System

David P. Sargeant, Michael W. Hedden, [ ... ], Martin R. Schiller

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, [ ... ], Karin Wadt

The Characteristic Changes in Hepatitis B Virus X Region for Hepatocellular Carcinoma: A Comprehensive Analysis Based on Global Data

Wenwen Li, Kaku Goto, [ ... ], Naoya Kato

Identification of Variants of Hepatitis C Virus (HCV) Entry Factors in Patients Highly Exposed to HCV but Remaining Uninfected: An ANRS Case-Control Study

Baptiste Fouquet, Jade Ghosn, [ ... ], Micheline Misrahi

HIV-1C proviral DNA for detection of drug resistance mutations

Kahsay Huruy, Andargachew Mulu, Uwe Gerd Liebert, Maier Melanie

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, [ ... ], Heiko Reutter

Fitness Costs of Mutations at the HIV-1 Capsid Hexamerization Interface

Siriphan Manocheewa, J. Victor Swain, [ ... ], James I. Mullins

Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis

Ziyan Wu, Shulan Zhang, [ ... ], Yongzhe Li

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