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RPS6KB2 c.1177T>C ;(p.S393P)
Variant ID: 11-67202074-T-C
NM_003952.2(
RPS6KB2
):c.1177T>C;(p.S393P)
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:
DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Doher, Nicholas N; Gupta, Harsh V HV
Publication Date: 2019
Variant appearance in text: RPS6KB2: S393P
PubMed Link:
31824748
Variant Present in the following documents:
tre-09-739-s003.xlsx, sheet 3
View BVdb publication page