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.




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
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