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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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