MSH2 c.678_679insT ;(p.R227*)

Variant ID: 2-47639585-A-AT

NM_000251.2(MSH2):c.678_679insT;(p.R227*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: N/A
PubMed Link: 36914848
Variant Present in the following documents:
View BVdb publication page



The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-Related Cancer
Venizelos, Andreas A; Elvebakken, Hege H; Perren, Aurel A; Nikolaienko, Oleksii O; Deng, Wei W; Lothe, Inger Marie B IMB; Couvelard, Anne A; Hjortland, Geir Olav GO; Sundlöv, Anna A; Svensson, Johanna J; Garresori, Harrish H; Kersten, Christian C; Hofsli, Eva E; Detlefsen, Sönke S; Krogh, Merete M; Sorbye, Halfdan H; Knappskog, Stian S
Publication Date: 2021-11-11

Variant appearance in text: N/A
PubMed Link: 34647903
Variant Present in the following documents:
View BVdb publication page