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NAGS c.697_698delinsTG ;(p.A233C)
Variant ID: 17-42083275-GC-TG
NM_153006.2(
NAGS
):c.697_698delinsTG;(p.A233C)
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:
The pupylation machinery is involved in iron homeostasis by targeting the iron storage protein ferritin.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Küberl, Andreas A; Polen, Tino T; Bott, Michael M
Publication Date: 2016-04-26
Variant appearance in text: NAGS: A233C
PubMed Link:
27078093
Variant Present in the following documents:
Main text
View BVdb publication page