Additional file 2: Figure S1. of De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
Year: 2017
Type: article
Abstract: Comparison of observed mutations and the simulated frequency of essential splice acceptor mutations in RB (99% CI) to find exon specific differential pathogenicity within essential splice mutations. Exons where the observed mutations are higher or lower than the 99% confidence interval of simulations are denoted by an asterisk (*). (PDF 143 kb)
Source: Figshare
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7136036673