Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the SBDS Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico Approach
Anfal Osama Mohamed Sati, Sara Ali Abdallah Ali, Rouaa Babikir Ahmed Abduallah, Manal S. A. Elseid, Mohamed Ahmed Salih
The paper predicts four novel SNPs in the SBDS gene associated with Shwachman-Diamond Syndrome using in silico methods and identifies potential disease-causing variants.
bioRxiv · Feb 6, 2019 · PreprintBioinformatics