Varaico: Literature-Extracted Genetic Variants

Gene:ECH1
Variant:p.A3V
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ECH1

NM_001398.3:p.A3V

Associated Papers

Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.

D'Annibale O et al.

Molecular Genetics and Metabolism, 2025

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
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