VWF c.7007C>T ;(p.P2336L)

Variant ID: 12-6092390-G-A

NM_000552.3(VWF):c.7007C>T;(p.P2336L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018-01

Variant appearance in text: VWF: 7007C>T; P2336L; rs144769404
PubMed Link: 31249928
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0037-1618571.pdf
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: VWF: P2336L; rs144769404
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page