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Updated: Apr 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
From an SNP to a Disease: A Comprehensive Statistical Analysis
1Department of Chemistry and Institute for Computational Engineering and Sciences, University of Texas at Austin, Austin, TX 78712, USA.
Abstract:
Understanding and linking at the molecular level a disease phenotype to a specific genotype often requires going through a protein structure and function. In this issue of Structure, Gao et al. (2015) perform large scale analysis of available sequences and structural data for more than 6000 mutants representing more than 600 proteins to uncover some interesting structural effects of disease-associated mutations.
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