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NOTCH1 c.542A>G ;(p.E181G)
Variant ID: 9-139417502-T-C
NM_017617.3(
NOTCH1
):c.542A>G;(p.E181G)
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:
[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX
Publication Date: 2019-08-14
Variant appearance in text: NOTCH1: 542A>G
PubMed Link:
31495132
Variant Present in the following documents:
Main text
cjh-40-08-656.pdf
View BVdb publication page