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NF1 c.1039C>G ;(p.Q347E)
Variant ID: 17-29527590-C-G
NM_001042492.2(
NF1
):c.1039C>G;(p.Q347E)
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:
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
Plos One
Hernández-Imaz, Elisabete E; Martín, Yolanda Y; de Conti, Laura L; Melean, German G; Valero, Ana A; Baralle, Marco M; Hernández-Chico, Concepción C
Publication Date: 2015
Variant appearance in text: NF1: 1039C>G
PubMed Link:
26509978
Variant Present in the following documents:
Main text
pone.0141735.pdf
View BVdb publication page