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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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The pathogenicity classification of PAH gene variants in the Iranian population

Reza Alibakhshi1, Mohsen Kazeminia2, Keivan Moradi1

  • 1Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Computational Biology and Chemistry
|March 26, 2022
PubMed

Keywords:
ACMG-AMP guidelinesIranPAH deficiencyPhenylalanine hydroxylaseVariant interpretation

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