ENG c.360+1G>C

Variant ID: 9-130591965-C-G

NM_001114753.2(ENG):c.360+1G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics
Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T
Publication Date: 2021-12-06

Variant appearance in text: ENG: 360+1G>C
PubMed Link: 34872578
Variant Present in the following documents:
  • 12920_2021_1139_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page