NOTCH1 c.2048C>G ;(p.A683G)

Variant ID: 9-139409121-G-C

NM_017617.3(NOTCH1):c.2048C>G;(p.A683G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain.

Neural Plasticity
Lee, Han-Chung HC; Tan, Kai-Leng KL; Cheah, Pike-See PS; Ling, King-Hwa KH
Publication Date: 2016

Variant appearance in text: NOTCH1: A683G
PubMed Link: 26881131
Variant Present in the following documents:
  • Main text
  • NP2016-7434191.pdf
View BVdb publication page