Publication
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin, Matteo D’Antonio, Aleksandr Jestin, Xiaodong Jiao, Mathieu Quinodoz, Lori Sullivan, Jessica C. Gardner, Emily M. Place, Michel Michaelides, Karolina Kaminska, Omar A. Mahroo, Elena Schiff, Genevieve Wright, Francesca Cancellieri, Veronika Vaclavik, Cristina Santos, Atta Ur Rehman, Sudeep Mehrotra, Hafiz Muhammad Azhar Baig, Muhammad Iqbal, Muhammad Ansar, Luisa Coutinho Santos, Ana Berta Sousa, Viet H. Tran, Hiroko Matsui, Anjana Bhatia, Muhammad Asif Naeem, Shehla J. Akram, Javed Akram, Sheikh Riazuddin, Carmen Ayuso, Eric A. Pierce, Alison J. Hardcastle, S. Amer Riazuddin, Kelly A. Frazer, J. Fielding Hejtmancik, Carlo Rivolta, Kinga M. Bujakowska, Gavin Arno, Andrew R. Webster, Radha Ayyagari
The American Journal of Human Genetics, September 2024, Elsevier
DOI: 10.1016/j.ajhg.2024.07.020