Varaico: Literature-Extracted Genetic Variants

Gene:ATPAF2
Variant:p.E45Splc
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ATPAF2

NM_145691.4:p.E45Splc

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S et al.

Genes, 2021

34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
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