Splicing mutations in human genetic disorders: examples, detection, and confirmation. [No authors listed] A Anna, G Monika - Journal of applied genetics, 2018 - Springer GSID: u1U5AtsJd8kJ
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next …. [No authors listed] PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer GSID: DJnbG1YrKx0J
Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease. Naumenko S. HD Gonorazky, S Naumenko, AK Ramani… - The American Journal of …, 2019 - Elsevier GSID: Rmtj5r6-ZswJ