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.




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