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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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