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Article

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

PloS one - 1 Jan 2018

Seifi Morteza, Walter Michael A

Abstract excerpt

Mutations in PITX2 have been implicated in several genetic disorders, particularly Axenfeld-Rieger syndrome. In order to determine the most reliable bioinformatics tools to assess the likely pathogenicity of PITX2 variants, the results of bioinformatics predictions were compared to the impact of variants on PITX2 structure and function. The MutPred, Provean, and PMUT bioinformatic tools were found to have the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29664915
DOI: 10.1371/journal.pone.0195971
PMCID: PMC5903617

Genes

PITX2

Variants

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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