PSEN1 c.457C>T ;(p.L153=)

Variant ID: 14-73640392-C-T

NM_000021.3(PSEN1):c.457C>T;(p.L153=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Life (Basel, Switzerland)
Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I
Publication Date: 2021-07-30

Variant appearance in text: PS1: 457C>T
PubMed Link: 34440516
Variant Present in the following documents:
  • Main text
  • life-11-00771.pdf
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: PSEN1: 457C>T; R153C
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page