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STN1 c.490_491delinsGC ;(p.I164A)
Variant ID: 10-105658725-AT-GC
NM_024928.4(
STN1
):c.490_491delinsGC;(p.I164A)
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:
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Cells
Amir, Mohd M; Khan, Parvez P; Queen, Aarfa A; Dohare, Ravins R; Alajmi, Mohamed F MF; Hussain, Afzal A; Islam, Asimul A; Ahmad, Faizan F; Hassan, Imtaiyaz I
Publication Date: 2020-02-04
Variant appearance in text: STN1: I164A
PubMed Link:
32033110
Variant Present in the following documents:
Main text
cells-09-00359.pdf
View BVdb publication page