MSH6 c.898_899delinsTA ;(p.R300*)

Variant ID: 2-48026020-CG-TA

NM_000179.2(MSH6):c.898_899delinsTA;(p.R300*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: MSH6: R300X
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
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Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

The Journal Of Clinical Endocrinology And Metabolism
Juhlin, C Christofer CC; Goh, Gerald G; Healy, James M JM; Fonseca, Annabelle L AL; Scholl, Ute I UI; Stenman, Adam A; Kunstman, John W JW; Brown, Taylor C TC; Overton, John D JD; Mane, Shrikant M SM; Nelson-Williams, Carol C; Bäckdahl, Martin M; Suttorp, Anna-Carinna AC; Haase, Matthias M; Choi, Murim M; Schlessinger, Joseph J; Rimm, David L DL; Höög, Anders A; Prasad, Manju L ML; Korah, Reju R; Larsson, Catharina C; Lifton, Richard P RP; Carling, Tobias T
Publication Date: 2015-03

Variant appearance in text: MSH6: Arg300*
PubMed Link: 25490274
Variant Present in the following documents:
  • Main text
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