Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.I505T
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ETFDH

NM_004453.4:p.I505T

Associated Papers

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Lin DF et al.

Bmc Medical Genomics, 2025

Genotype-Phenotype Correlation of ETF Dehydrogenase Gene-Related Multiple Acyl-CoA Dehydrogenation Deficiency in Chinese Patients.

Liang H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.

Penicaud R et al.

Jimd Reports, 2025

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.

Wang C et al.

Molecular Medicine Reports, 2020

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