NF1 c.2019C>A ;(p.C673*)

Variant ID: 17-29553470-C-A

NM_001042492.2(NF1):c.2019C>A;(p.C673*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases
Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H
Publication Date: 2019-09-18

Variant appearance in text: NF1: Cys673*
PubMed Link: 31533797
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1196.pdf
View BVdb publication page