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PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

by Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., Verma, Anurag, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Fuller, Erin D., Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Bao, Suying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Backman, Joshua, Damask, Amy, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Locke, Adam, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Ye, Bin, Coppola, Giovanni, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Abecasis, Goncalo, Baras, Aris, Deubler, Andrew, Economides, Aris, Lotta, Luca A.
Published in Genetics in Medicine Open (2024)

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