FBN1 c.7276_7278del ;(p.H2426del)

Variant ID: 15-48717987-AATG-A

NM_000138.4(FBN1):c.7276_7278del;(p.H2426del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome.

Journal Of Cardiology Cases
Cabrera-Bueno, Fernando F; Fernandez-Rosado, Francisco F; Alvarez-Cubero, Maria Jesus MJ; Martinez-Espin, Esther E; Entrala-Bernal, Carmen C
Publication Date: 2014-12

Variant appearance in text: FBN1: 7276_7278delCAT
PubMed Link: 30534251
Variant Present in the following documents:
  • Main text
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