KEL c.105C>T ;(p.P35=)

Variant ID: 7-142658565-G-A

NM_000420.2(KEL):c.105C>T;(p.P35=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications
Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G
Publication Date: 2017-11-23

Variant appearance in text: KEL: 105C>T; P35P
PubMed Link: 29170503
Variant Present in the following documents:
  • 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: KEL: P35P
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 16
View BVdb publication page