Table S1. List of all variants in ACO2 and associated clinical phenotypes, population frequency, and in silico predictions for pathogenicity. Click here for additional data file. (37.8KB, xlsx)
This variant was only mentioned in reference to a previous publication
Table S1. List of all variants in ACO2 and associated clinical phenotypes, population frequency, and in silico predictions for pathogenicity. Click here for additional data file. (37.8KB, xlsx)
This variant was only mentioned in reference to a previous publication
Exon 3 c.336C>G r.(?) p.(Ser112Arg) Pathogenic (recessive) Aconitase 10 ACO2_000001 3,19,20
This variant is mentioned only in reference to previous publications (PMID: 22405087, 26992325, 28463998)
Exon 3 c.336C>G r.(?) p.(Ser112Arg) Pathogenic (recessive) Aconitase 10 ACO2_000001 3,19,20
This variant is mentioned only in reference to previous publications (PMID: 22405087, 26992325, 28463998)