FLNB c.82_83delinsAG ;(p.E28R)

Variant ID: 3-57994373-GA-AG

NM_001457.3(FLNB):c.82_83delinsAG;(p.E28R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Human Molecular Genetics
Farrington-Rock, Claire C; Kirilova, Veneta V; Dillard-Telm, Lisa L; Borowsky, Alexander D AD; Chalk, Sara S; Rock, Matthew J MJ; Cohn, Daniel H DH; Krakow, Deborah D
Publication Date: 2008-03-01

Variant appearance in text: FLNB: E28R
PubMed Link: 17635842
Variant Present in the following documents:
  • Main text
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