FBN1 c.1301_1302del ;(p.Y434Sfs*17)

Variant ID: 15-48808404-GAT-G

NM_000138.4(FBN1):c.1301_1302del;(p.Y434Sfs*17)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.

Frontiers In Pediatrics
Brosens, Erwin E; Peters, Nina C J NCJ; van Weelden, Kim S KS; Bendixen, Charlotte C; Brouwer, Rutger W W RWW; Sleutels, Frank F; Bruggenwirth, Hennie T HT; van Ijcken, Wilfred F J WFJ; Veenma, Danielle C M DCM; Otter, Suzan C M Cochius-Den SCMC; Wijnen, Rene M H RMH; Eggink, Alex J AJ; van Dooren, Marieke F MF; Reutter, Heiko Martin HM; Rottier, Robbert J RJ; Schnater, J Marco JM; Tibboel, Dick D; de Klein, Annelies A
Publication Date: 2021

Variant appearance in text: FBN1: Tyr434Serfs*17
PubMed Link: 35186825
Variant Present in the following documents:
  • Main text
  • fped-09-800915.pdf
View BVdb publication page