APC c.1724G>C ;(p.C575S)

Variant ID: 5-112164650-G-C

NM_000038.5(APC):c.1724G>C;(p.C575S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High abundance of plasma cells secreting transglutaminase 2-specific IgA autoantibodies with limited somatic hypermutation in celiac disease intestinal lesions.

Nature Medicine
Di Niro, Roberto R; Mesin, Luka L; Zheng, Nai-Ying NY; Stamnaes, Jorunn J; Morrissey, Michael M; Lee, Jane-Hwei JH; Huang, Min M; Iversen, Rasmus R; du Pré, M Fleur MF; Qiao, Shuo-Wang SW; Lundin, Knut E A KE; Wilson, Patrick C PC; Sollid, Ludvig M LM
Publication Date: 2012-02-26

Variant appearance in text: APC: C575S
PubMed Link: 22366952
Variant Present in the following documents:
  • Main text
  • nihms347057.pdf
View BVdb publication page