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SI c.595T>A ;(p.F199I)
Variant ID: 3-164785168-A-T
NM_001041.3(
SI
):c.595T>A;(p.F199I)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The DEAD-box helicase Mss116 plays distinct roles in mitochondrial ribogenesis and mRNA-specific translation.
Nucleic Acids Research
De Silva, Dasmanthie D; Poliquin, Sarah S; Zeng, Rui R; Zamudio-Ochoa, Angelica A; Marrero, Natalie N; Perez-Martinez, Xochitl X; Fontanesi, Flavia F; Barrientos, Antoni A
Publication Date: 2017-06-20
Variant appearance in text: SI: F199I
PubMed Link:
28520979
Variant Present in the following documents:
gkx426_Supp.pdf
View BVdb publication page
Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation.
Nature Reviews. Molecular Cell Biology
Mick, David U DU; Fox, Thomas D TD; Rehling, Peter P
Publication Date: 2011-01
Variant appearance in text: SI: F199I
PubMed Link:
21179059
Variant Present in the following documents:
Main text
View BVdb publication page