PMC:6174355 / 24910-25478 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6174355","sourcedb":"PMC","sourceid":"6174355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6174355","text":"To determine whether gene-specific variation rates correlated with tolerance or intolerance to variation, we focused on the 6,490 variants classified as P and LP for deafness and normalized to the total number of coding variants. We found that ∼69% of coding variants in GJB2 are disease causing (P and LP variants), meaning that for any new variant identified in the coding sequence of GJB2, there is a 70% chance that it is pathogenic. Both COL4A5 (MIM: 303630) (55.3%) and SLC26A4 (47.2%) also had high (P+LP)/(Coding Variant) ratios (Figures 4C and S3B, Table S5).","tracks":[]}