5 research outputs found
Additional file 3: Figure S3. of MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Maternally inherited 1.4-Mb CNV deletion in patient 4 and known genes within the deleted interval. (JPG 883 kb
Additional file 4: Table S1. of MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Summary for clinical testing of mitochondrial electron transport chain (ETC) results in patients with MIPEP variants. NA not applicable, SD standard deviation. (JPG 852 kb