The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionKatta M. Girisha, Geert Mortier, Anju Shukla et al.|Human Mutation|2018Cited by 70
p.Arg69Trp in <i>RNASEH2C</i> is a founder variant in three Indian families with Aicardi–Goutières syndromeMalavika Hebbar, Anju Shukla, Anil Kanthi et al.|American Journal of Medical Genetics Part A|2017Cited by 8