Appendix 2 of
Al-Hujaili, Mol Vis 2019; 25:851-858. Appendix 2 of
Al-Hujaili, Mol Vis 2019; 25:851-858.
Appendix 2. Additional variants detected by Next Generation Sequencing in Patient 1, with TRPM1- associated congenital stationary night blindness (CSNB).
To access the data, click or select the words “Appendix 2.” None of these variants would be expected to sufficiently explain the phenotype, however a modifying effect cannot be rules out. ExAC (http://exac.broadinstitute.org/) was accessed on June 13, 2019.