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F2 c.1015C>G ;(p.R339G)
Variant ID: 11-46748272-C-G
NM_000506.3(
F2
):c.1015C>G;(p.R339G)
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:
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.
Frontiers In Immunology
Barzaghi, Federica F; Passerini, Laura L; Bacchetta, Rosa R
Publication Date: 2012
Variant appearance in text: F2: 1015C>G
PubMed Link:
23060872
Variant Present in the following documents:
Main text
View BVdb publication page