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Article

The pathogenicity classification of PAH gene variants in the Iranian population.

Computational biology and chemistry - 1 Jun 2022

Alibakhshi Reza, Kazeminia Mohsen, Moradi Keivan

Abstract excerpt

Till now not many studies have been conducted to classify PAH gene variants according to American College of Medical Genetics and Genomics (ACMG-AMP) guidelines. The aim of this study was to collect all PAH gene variants reported among Iranian population and investigate their pathogenicity based on ACMG-AMP guidelines. Systematic collection of PAH gene variants, verification of variants, in silico analysis, and...

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PMID: 35339094
DOI: 10.1016/j.compbiolchem.2022.107665

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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