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TG c.2134dup ;(p.A712Gfs*24)
Variant ID: 8-133899749-A-AG
NM_003235.4(
TG
):c.2134dup;(p.A712Gfs*24)
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:
Transcriptional differentiation of Trypanosoma brucei during in vitro acquisition of resistance to acoziborole.
Plos Neglected Tropical Diseases
Steketee, Pieter C PC; Giordani, Federica F; Vincent, Isabel M IM; Crouch, Kathryn K; Achcar, Fiona F; Dickens, Nicholas J NJ; Morrison, Liam J LJ; MacLeod, Annette A; Barrett, Michael P MP
Publication Date: 2021-11
Variant appearance in text: TG: 2133dupG
PubMed Link:
34752454
Variant Present in the following documents:
pntd.0009939.s005.xlsx, sheet 3
View BVdb publication page
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Frontiers In Endocrinology
Stoupa, Athanasia A; Al Hage Chehade, Ghada G; Chaabane, Rim R; Kariyawasam, Dulanjalee D; Szinnai, Gabor G; Hanein, Sylvain S; Bole-Feysot, Christine C; Fourrage, Cécile C; Nitschke, Patrick P; Thalassinos, Caroline C; Pinto, Graziella G; Mnif, Mouna M; Baron, Sabine S; De Kerdanet, Marc M; Reynaud, Rachel R; Barat, Pascal P; Hachicha, Mongia M; Belguith, Neila N; Polak, Michel M; Carré, Aurore A
Publication Date: 2020
Variant appearance in text: TG: 2132_2133insG
PubMed Link:
33692749
Variant Present in the following documents:
Main text
fendo-11-545339.pdf
View BVdb publication page