Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Jci Insight
Conte, Matilde I MI; Poli, M Cecilia MC; Taglialatela, Angelo A; Leuzzi, Giuseppe G; Chinn, Ivan K IK; Salinas, Sandra A SA; Rey-Jurado, Emma E; Olivares, Nixa N; Veramendi-Espinoza, Liz L; Ciccia, Alberto A; Lupski, James R JR; Aldave Becerra, Juan Carlos JC; Mace, Emily M EM; Orange, Jordan S JS
DNA Damage Repair Defects and Survival Outcomes for Patients With Resected Pancreatic Ductal Adenocarcinoma.
Pancreas
Chang, Amy E AE; Radke, Marc R MR; Zhen, David B DB; Baker, Kelsey K KK; Coveler, Andrew L AL; Wong, Kit Man KM; Pillarisetty, Venu G VG; Reddi, Deepti D; Redman, Mary W MW; Swisher, Elizabeth E; Chiorean, Elena Gabriela EG
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12
Variant appearance in text: KMT2C: 2646delC; Val884TrpfsTer29; rs751686690