VWF c.1885del ;(p.Y629Mfs*22)

Variant ID: 12-6166083-TA-T

NM_000552.3(VWF):c.1885del;(p.Y629Mfs*22)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report.

Bmc Nephrology
Mise, Koki K; Ubara, Yoshifumi Y; Matsumoto, Masanori M; Sumida, Keiichi K; Hiramatsu, Rikako R; Hasegawa, Eiko E; Yamanouchi, Masayuki M; Hayami, Noriko N; Suwabe, Tatsuya T; Hoshino, Junichi J; Sawa, Naoki N; Ohashi, Kenichi K; Kokame, Koichi K; Miyata, Toshiyuki T; Fujimura, Yoshihiro Y; Takaichi, Kenmei K
Publication Date: 2013-07-20

Variant appearance in text: VWF: 1885delT
PubMed Link: 23870247
Variant Present in the following documents:
  • Main text
  • 1471-2369-14-156.pdf
View BVdb publication page