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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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