KCTD7 c.314G>A ;(p.G105E)

Variant ID: 7-66098431-G-A

NM_153033.4(KCTD7):c.314G>A;(p.G105E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Annals Of Neurology
Metz, Kyle A KA; Teng, Xinchen X; Coppens, Isabelle I; Lamb, Heather M HM; Wagner, Bart E BE; Rosenfeld, Jill A JA; Chen, Xianghui X; Zhang, Yu Y; Kim, Hee Jong HJ; Meadow, Michael E ME; Wang, Tim Sen TS; Haberlandt, Edda D ED; Anderson, Glenn W GW; Leshinsky-Silver, Esther E; Bi, Weimin W; Markello, Thomas C TC; Pratt, Marsha M; Makhseed, Nawal N; Garnica, Adolfo A; Danylchuk, Noelle R NR; Burrow, Thomas A TA; Jayakar, Parul P; McKnight, Dianalee D; Agadi, Satish S; Gbedawo, Hatha H; Stanley, Christine C; Alber, Michael M; Prehl, Isabelle I; Peariso, Katrina K; Ong, Min Tsui MT; Mordekar, Santosh R SR; Parker, Michael J MJ; Crooks, Daniel D; Agrawal, Pankaj B PB; Berry, Gerard T GT; Loddenkemper, Tobias T; Yang, Yaping Y; Maegawa, Gustavo H B GHB; Aouacheria, Abdel A; Markle, Janet G JG; Wohlschlegel, James A JA; Hartman, Adam L AL; Hardwick, J Marie JM
Publication Date: 2018-11

Variant appearance in text: KCTD7: 314G>A
PubMed Link: 30295347
Variant Present in the following documents:
  • Main text
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