FBN1 c.8352dup ;(p.T2785Yfs*16)

Variant ID: 15-48703450-T-TA

NM_000138.4(FBN1):c.8352dup;(p.T2785Yfs*16)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Genetics Research
Zhurayev, Rustam R; Proost, Dorien D; Zerbino, Dmytro D; Fedorenko, Viktor V; Meester, Josephina A N JA; VAN Laer, Lut L; Loeys, Bart L BL
Publication Date: 2016-10-11

Variant appearance in text: FBN1: 8352_8353insT; Thr2785Tyrfs*16
PubMed Link: 27724990
Variant Present in the following documents:
  • Main text
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