Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.
Sabharwal A, Gupta V, Kv S, Kumar Manokaran R, Verma A, Mishra A, Bhoyar RC, Jain A, Sivadas A, Rawat S, et al. Mitochondrion. 2024 Mar; 75:101844. Epub 2024 Jan 17.