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Article

Congenital disease SNPs target lineage specific structural elements in protein kinases.

Proceedings of the National Academy of Sciences of the United States of America - 1 Jul 2008

Torkamani Ali, Kannan Natarajan, Taylor Susan S, Schork Nicholas J

Abstract excerpt

The catalytic domain of protein kinases harbors a large number of disease-causing single nucleotide polymorphisms (SNPs) and common or neutral SNPs that are not known or hypothesized to be associated with any disease. Distinguishing these two types of polymorphisms is critical in accurately predicting the causative role of SNPs in both candidate gene and genome-wide association studies. In this study, we have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18579784
DOI: 10.1073/pnas.0802403105
PMCID: PMC2449356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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