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Mutation databases

Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

Hege Beard, Anuradha Cholleti, [ ... ], Kathryn A. Loving

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Michelle Falcone, Kemal O. Yariz, [ ... ], Mustafa Tekin

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

FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst

Yoji Ogura, Shoji Yabuki, [ ... ], Shiro Ikegawa

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

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

Comparison of Mutation Patterns in Full-Genome A/H3N2 Influenza Sequences Obtained Directly from Clinical Samples and the Same Samples after a Single MDCK Passage

Hong Kai Lee, Julian Wei-Tze Tang, [ ... ], Evelyn Siew-Chuan Koay

The Influence of Angiotensin Converting Enzyme and Angiotensinogen Gene Polymorphisms on Hypertrophic Cardiomyopathy

Rong Luo, Xiaoping Li, [ ... ], Xiushan Wu

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, [ ... ], Huijun Yuan

Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

Amanda Ramos, Cristina Santos, [ ... ], Maria Pilar Aluja

Prevalence of Dural Ectasia in Loeys-Dietz Syndrome: Comparison with Marfan Syndrome and Normal Controls

Atsushi K. Kono, Masahiro Higashi, [ ... ], Kazuro Sugimura

Accumulation of Protease Mutations among Patients Failing Second-Line Antiretroviral Therapy and Response to Salvage Therapy in Nigeria

Holly E. Rawizza, Beth Chaplin, [ ... ], Phyllis J. Kanki

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

Hot Spots in a Network of Functional Sites

Pemra Ozbek, Seren Soner, Turkan Haliloglu

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