TG c.969_970insA ;(p.D324Rfs*37)

Variant ID: 8-133895138-C-CA

NM_003235.4(TG):c.969_970insA;(p.D324Rfs*37)

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: TG: 969_970insA
PubMed Link: 34872578
Variant Present in the following documents:
  • 12920_2021_Article_1139.pdf
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 969_970insA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page