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Updated: Sep 14, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

Hyperammonemia: a review of etiologies, whole-exome sequencing diagnosis, and Iranian case reports

Reza Hajati1, Sharareh Kamfar2, Reyhaneh Seyfi3

  • 1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Journal of Diabetes and Metabolic Disorders
|September 13, 2026
PubMed
Abstract

Keywords:
Fatty acid oxidation disorderHyperammonemiaOrganic acidemiaUrea cycle disorderWhole exome sequencing

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