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