MED23 c.2932C>T ;(p.L978F)

Variant ID: 6-131917150-G-A

NM_004830.3(MED23):c.2932C>T;(p.L978F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-cell RNA sequencing reveals the tumor microenvironment and facilitates strategic choices to circumvent treatment failure in a chemorefractory bladder cancer patient.

Genome Medicine
Lee, Hye Won HW; Chung, Woosung W; Lee, Hae-Ock HO; Jeong, Da Eun DE; Jo, Areum A; Lim, Joung Eun JE; Hong, Jeong Hee JH; Nam, Do-Hyun DH; Jeong, Byong Chang BC; Park, Se Hoon SH; Joo, Kyeung-Min KM; Park, Woong-Yang WY
Publication Date: 2020-05-27

Variant appearance in text: MED23: 2932C>T; L978F
PubMed Link: 32460812
Variant Present in the following documents:
  • 13073_2020_741_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: MED23: 2932C>T
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page