Appendix 2 of El-Asrag, Mol Vis 2022; 28:48-56.


Appendix 2. Homozygosity mapping in family MM1 using WES data.

To access the data, click or select the words “Appendix 2.” MultiIdeogram of the WES data of patient IV:2 showing homozygous regions in blue. The NRL gene (arrowed) is located on chromosome 14 at ~24.6Mb (hg19) and maps within the homozygous region 21,860,360–25,288,227.