Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 6554T>C; Leu2185Pro
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02
Variant appearance in text: KMT2D: 6554T>C; Leu2185Pro
Genetic modification of primary human B cells to model high-grade lymphoma.
Nature Communications
Caeser, Rebecca R; Di Re, Miriam M; Krupka, Joanna A JA; Gao, Jie J; Lara-Chica, Maribel M; Dias, João M L JML; Cooke, Susanna L SL; Fenner, Rachel R; Usheva, Zelvera Z; Runge, Hendrik F P HFP; Beer, Philip A PA; Eldaly, Hesham H; Pak, Hyo-Kyung HK; Park, Chan-Sik CS; Vassiliou, George S GS; Huntly, Brian J P BJP; Mupo, Annalisa A; Bashford-Rogers, Rachael J M RJM; Hodson, Daniel J DJ
Publication Date: 2019-10-04
Variant appearance in text: KMT2D: 6554T>C; Leu2185Pro; rs1277302689