NF1 c.945G>C ;(p.Q315H)

Variant ID: 17-29527496-G-C

NM_001042492.2(NF1):c.945G>C;(p.Q315H)

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: 945G>C
PubMed Link: 26509978
Variant Present in the following documents:
  • Main text
  • pone.0141735.pdf
View BVdb publication page