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Douglas E. V. Pires et al.
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A Blomhoff et al.
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E Capriotti et al.
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Haploview: analysis and visualization of LD and haplotype maps
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Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes
JR Long et al.
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Human non-synonymous SNPs: server and survey
V Ramensky et al.
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Amino acid-base interactions: a three-dimensional analysis of protein-DNA interactions at an atomic level
NM Luscombe et al.
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D Chasman et al.
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R Apweiler et al.
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E Daugas et al.
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MJ Kelner et al.
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