Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.H379R
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HADHB

NM_000183.3:p.H379R

Associated Papers

Acute Fatty Liver of Pregnancy and Fetal Fatty Acid Oxidation Disorders: A Systematic Review.

Varotsis D et al.

O&g Open, 2026

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Kang E et al.

Bmc Pediatrics, 2018

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

Bo R et al.

Journal of Human Genetics, 2017

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F et al.

Journal of Inherited Metabolic Disease, 2016

Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.

Kobayashi T et al.

The Journal of Obstetrics and Gynaecology Research, 2015

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A et al.

Molecular Genetics and Metabolism, 2011

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.

Purevsuren J et al.

Molecular Genetics and Metabolism, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."