Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.S442L
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ETFDH

NM_004453.4:p.S442L

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Ali A et al.

Genes, 2021

Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.

Elkhateeb N et al.

Jimd Reports, 2021

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