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Article

Assessment of methods for predicting the effects of PTEN and TPMT protein variants.

Human mutation - 1 Sept 2019

Pejaver Vikas, Babbi Giulia, Casadio Rita, Folkman Lukas, Katsonis Panagiotis, Kundu Kunal, Lichtarge Olivier, Martelli Pier Luigi, Miller Maximilian, Moult John, Pal Lipika R, Savojardo Castrense, Yin Yizhou, Zhou Yaoqi, Radivojac Predrag, Bromberg Yana

Abstract excerpt

Thermodynamic stability is a fundamental property shared by all proteins. Changes in stability due to mutation are a widespread molecular mechanism in genetic diseases. Methods for the prediction of mutation-induced stability change have typically been developed and evaluated on incomplete and/or biased data sets. As part of the Critical Assessment of Genome Interpretation, we explored the utility of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31184403
DOI: 10.1002/humu.23838
PMCID: PMC6744362

Genes

PTEN
TPMT

Provenance

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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