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Rolf Apweiler et al.
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Sian Jones et al.
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S. Teng et al.
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Somatic mutations affect key pathways in lung adenocarcinoma
Li Ding et al.
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Comprehensive genomic characterization defines human glioblastoma genes and core pathways
L. Chin et al.
NATURE (2008)
Molecular origins of cancer: Oncogenes and cancer
Carlo M. Croce
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Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
Sian Jones et al.
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An integrated genomic analysis of human glioblastoma Multiforme
D. Williams Parsons et al.
SCIENCE (2008)
A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6
Rebecca Jones et al.
CANCER RESEARCH (2007)
Computational characterization of structural role of the non-active site mutation M36I of human immunodeficiency virus type 1 protease
Hirotaka Ode et al.
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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype:: Lessons from recent developments in the IARC TP53 database
Audrey Petitjean et al.
HUMAN MUTATION (2007)
SNAP: predict effect of non-synonymous polymorphisms on function
Yana Bromberg et al.
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Patterns of somatic mutation in human cancer genomes
Christopher Greenman et al.
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Distinguishing cancer-associated missense mutations from common polymorphisms
Joshua S. Kaminker et al.
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Determinants of protein function revealed by combinatorial entropy optimization
Boris Reva et al.
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Identification and functional analysis of common human flavin-containing monooxygenase 3 genetic variants
Sevasti B. Koukouritaki et al.
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CancerGenes: a gene selection resource for cancer genome projects
Maureen E. Higgins et al.
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The consensus coding sequences of human breast and colorectal cancers
Tobias Sjoeblom et al.
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Catalytic inactivation of human phospholipase D2 by a naturally occurring Gly901Asp mutation
Yoshiji Yamada et al.
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Stephan Tiede et al.
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E230Q mutation of the catalytic subunit of cAMP-dependent protein kinase affects local structure and the binding of peptide inhibitor
MU Ung et al.
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PIANA: protein interactions and network analysis
R Aragues et al.
BIOINFORMATICS (2006)
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation
M. Krumbholz et al.
BIOCHEMISTRY AND CELL BIOLOGY (2006)
SNPs3D: Candidate gene and SNP selection for association studies
P Yue et al.
BMC BIOINFORMATICS (2006)
Identification and analysis of deleterious human SNPs
P Yue et al.
JOURNAL OF MOLECULAR BIOLOGY (2006)
The natural mutation by deletion of Lys9 in the thrombin A-chain affects the pK(a) value of catalytic residues, the overall enzyme's stability and conformational transitions linked to Na+ binding
R De Cristofaro et al.
FEBS JOURNAL (2006)
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
EA Stone et al.
GENOME RESEARCH (2005)
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
R Karchin et al.
BIOINFORMATICS (2005)
Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis
S Mooney
BRIEFINGS IN BIOINFORMATICS (2005)
A family of evolution-entropy hybrid methods for ranking protein residues by importance
I Mihalek et al.
JOURNAL OF MOLECULAR BIOLOGY (2004)
MUSCLE: multiple sequence alignment with high accuracy and high throughput
RC Edgar
NUCLEIC ACIDS RESEARCH (2004)
SDPpred: a tool for prediction of amino acid residues that determine differences in functional specificity of homologous proteins
OV Kalinina et al.
NUCLEIC ACIDS RESEARCH (2004)
Mutation of active site residues in the chitin-binding domain ChBDChiAl from chitinase A1 of Bacillus circulans alters substrate specificity:: Use of a green fluorescent protein binding assay
M Hardt et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2004)
Coding sing le-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects
PD Thomas et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain
O Takamiya et al.
CLINICAL AND LABORATORY HAEMATOLOGY (2002)
Effect of single active-site cleft mutation on product specificity in a thermostable bacterial cellulase
TR Rignall et al.
APPLIED BIOCHEMISTRY AND BIOTECHNOLOGY (2002)
Effects of mutations on the thermodynamics of a protein folding reaction: Implications for the mechanism of formation of the intermediate and transition states
M Lorch et al.
BIOCHEMISTRY (2000)
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