VWF c.7987C>T ;(p.R2663C)

Variant ID: 12-6061685-G-A

NM_000552.3(VWF):c.7987C>T;(p.R2663C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases
Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY
Publication Date: 2020-12

Variant appearance in text: VWF: R2663C; rs370662678
PubMed Link: 33362202
Variant Present in the following documents:
  • pntd.0008883.s010.xlsx, sheet 1
View BVdb publication page



Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfusion = Trasfusione Del Sangue
Berber, Ergul E; Ozbil, Mehmet M; Brown, Christine C; Baslar, Zafer Z; Caglayan, S Hande SH; Lillicrap, David D
Publication Date: 2017-10

Variant appearance in text: VWF: R2663C
PubMed Link: 27483487
Variant Present in the following documents:
  • Main text
View BVdb publication page