A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

Kolesnikova, M., Oh, J. K., Wang, J., Lee, W., Zernant, J., Su, P.-Y., Kim, A. H., Jenny, L. A., Yang, T., Allikmets, R., & Tsang, S. H. (2022). A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease. JCI Insight, 7(23). https://doi.org/10.1172/jci.insight.162687

Authors:

Masha Kolesnikova

Jin Kyun Oh

Jiali Wang

Winston Lee

Jana Zernant

Pei-Yin Su

Angela H. Kim

Laura A. Jenny

Tingting Yang

Rando Allikmets

Stephen H. Tsang