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.




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