Associated Papers
ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.
Baldo F et al.
Genes, 2025
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.
Roca I et al.
Genomics, 2020
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS39
Select a paper to view details