Characterization of single-nucleotide polymorphisms in coding regions of human genes

Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.

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Amino acid substitution matrices from protein blocks.

Steven Henikoff, Jorja G. Henikoff · Proceedings of the National Academy of Sciences · 1992 · 6.3K citations · Full text

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The Future of Genetic Studies of Complex Human Diseases

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Mutation in blood coagulation factor V associated with resistance to activated protein C

Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations

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Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

Ann M. Saunders, Warren J. Strittmatter, D. E. Schmechel et al. · Neurology · 1993 · 3.8K citations · Full text