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VWF c.2479T>A ;(p.C827S)
Variant ID: 12-6145621-A-T
NM_000552.3(
VWF
):c.2479T>A;(p.C827S)
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:
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.
Genes
Lago, Juliana J; Groot, Helena H; Navas, Diego D; Lago, Paula P; Gamboa, María M; Calderón, Dayana D; Polanía-Villanueva, Diana C DC
Publication Date: 2021-11-18
Variant appearance in text: VWF: 2479T>A; Cys827Ser
PubMed Link:
34828413
Variant Present in the following documents:
Main text
genes-12-01807.pdf
View BVdb publication page