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GAA c.430T>G ;(p.S144A)
Variant ID: 17-78078815-T-G
NM_000152.3(
GAA
):c.430T>G;(p.S144A)
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:
Mitochondrial Ferritin: Its Role in Physiological and Pathological Conditions.
Cells
Levi, Sonia S; Ripamonti, Maddalena M; Dardi, Marko M; Cozzi, Anna A; Santambrogio, Paolo P
Publication Date: 2021-08-03
Variant appearance in text: GAA: Ser144Ala
PubMed Link:
34440737
Variant Present in the following documents:
cells-10-01969.pdf
View BVdb publication page
Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.
Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01
Variant appearance in text: GAA: Ser144Ala
PubMed Link:
25568942
Variant Present in the following documents:
pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page