Splice-site variant in the RPS7 5' UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia

In conclusion, the established consequences of 5' UTR splice-site variant c.-19+1G>T in the RPS7 gene provide evidence that it is likely pathogenic.PMID:36057918 | DOI:10.1111/cge.14221

Source: Clinical Genetics - September 4, 2022 Category: Genetics & Stem Cells Authors: Liubov O Skorodumova Ksenia A Davydenko Alexandra Y Filatova Mikhail Yu Skoblov Nikolay A Kulemin Maryam B Khadzhieva Elena S Zakharova Veronika D Gordeeva Nataliya S Smetanina Irina V Fedyushkina Lyudmila A Anastasevich Sergey S Larin Source Type: research