FBN1 c.5782T>A ;(p.C1928S)

Variant ID: 15-48738909-A-T

NM_000138.4(FBN1):c.5782T>A;(p.C1928S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Bmc Musculoskeletal Disorders
Reyes-Hernández, Octavio D OD; Palacios-Reyes, Carmen C; Chávez-Ocaña, Sonia S; Cortés-Malagón, Enoc M EM; Alonso-Themann, Patricia Garcia PG; Ramos-Cano, Víctor V; Ramírez-Bello, Julián J; Sierra-Martínez, Mónica M
Publication Date: 2016-02-15

Variant appearance in text: FBN1: C1928S
PubMed Link: 26875674
Variant Present in the following documents:
  • Main text
  • 12891_2016_Article_935.pdf
View BVdb publication page