HR c.1054dup ;(p.A352Gfs*41)

Variant ID: 8-21984900-G-GC

NM_005144.4(HR):c.1054dup;(p.A352Gfs*41)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human Mutation
Andersson, Nadine G NG; Labarque, Veerle V; Letelier, Anna A; Mancuso, Maria Elisa ME; Bührlen, Martina M; Fischer, Kathelijn K; Kartal-Kaess, Mutlu M; Koskenvuo, Minna M; Mikkelsen, Torben T; Ljung, Rolf R; ,
Publication Date: 2020-12

Variant appearance in text: HR: 1054dup
PubMed Link: 32935414
Variant Present in the following documents:
  • Main text
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