Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome
Şehime Gülsün Temel, Mahmut Çerkez Ergören, Elena Manara, Stefano Paolacci, Gülten Tuncel, Şeref Gül, Matteo Bertelli
Topics & Concepts
Compound heterozygosityHeterozygote advantageGeneticsLipodystrophyGenePhenotypeBiologyAlleleMedicineViral loadVirusAntiretroviral therapyRNA Research and SplicingRNA modifications and cancerRNA and protein synthesis mechanisms