F2 c.1197C>G ;(p.R399=)

Variant ID: 11-46749612-C-G

NM_000506.3(F2):c.1197C>G;(p.R399=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Medicine
Long, Xigui X; Li, Zhuo Z; Huang, Yanru Y; Zhang, Li L; Lv, Weigang W; Teng, Yanling Y; Linpeng, Siyuan S; Liang, Desheng D; Wu, Lingqian L
Publication Date: 2019-05

Variant appearance in text: F2: 1197C>G
PubMed Link: 31096510
Variant Present in the following documents:
  • Main text
  • medi-98-e15692.pdf
View BVdb publication page