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APC c.1144_1146delinsCAT ;(p.R382H)
Variant ID: 5-112154873-AGG-CAT
NM_000038.5(
APC
):c.1144_1146delinsCAT;(p.R382H)
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:
Paradoxical bleeding and thrombotic episodes of dysprothrombinaemia due to a homozygous Arg382His mutation.
Thrombosis And Haemostasis
Ding, Qiulan Q; Yang, Likui L; Zhao, Xiaoqing X; Wu, Wenman W; Wang, Xuefeng X; Rezaie, Alireza R AR
Publication Date: 2017-02-28
Variant appearance in text: APC: Arg382His
PubMed Link:
27975099
Variant Present in the following documents:
Main text
View BVdb publication page