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TG c.794_802del ;(p.L265_L267del)
Variant ID: 8-133894760-CCTGGACCTT-C
NM_003235.4(
TG
):c.794_802del;(p.L265_L267del)
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:
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Thyroid : Official Journal Of The American Thyroid Association
Löf, Christoffer C; Patyra, Konrad K; Kuulasmaa, Teemu T; Vangipurapu, Jagadish J; Undeutsch, Henriette H; Jaeschke, Holger H; Pajunen, Tuulia T; Kero, Andreina A; Krude, Heiko H; Biebermann, Heike H; Kleinau, Gunnar G; Kühnen, Peter P; Rantakari, Krista K; Miettinen, Päivi P; Kirjavainen, Turkka T; Pursiheimo, Juha-Pekka JP; Mustila, Taina T; Jääskeläinen, Jarmo J; Ojaniemi, Marja M; Toppari, Jorma J; Ignatius, Jaakko J; Laakso, Markku M; Kero, Jukka J
Publication Date: 2016-09
Variant appearance in text: TG: 793_801del
PubMed Link:
27373559
Variant Present in the following documents:
Main text
thy.2016.0016.pdf
View BVdb publication page