PMC:4067558 / 47711-48230 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"(E) Gender distribution in all probands (n = 2,446) versus in probands with autosomal pathogenic CNVs (n = 72). Autosomal pathogenic CNVs were partitioned into two categories: highly penetrant CNVs (n = 21) and pathogenic CNVs with variable expressivity and/or incomplete penetrance (n = 48). The male-to-female ratio is shown above each group. The number of affected subjects is shown at the bottom of each bar. The proportion of females was increased among carriers of pathogenic CNVs associated with high penetrance.","tracks":[]}