Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R et al.
Frontiers in Genetics, 2020
33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S1__Ultra-rare_variants_observed_for_231_CHD_samples_including_gnomAD_o_e_constraint_scores.XLSX › All_LoF_Variants
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
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