FBN1 c.2215T>C ;(p.C739R)

Variant ID: 15-48789541-A-G

NM_000138.4(FBN1):c.2215T>C;(p.C739R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg
Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C
Publication Date: 2009-09

Variant appearance in text: FBN1: 2215T>C
PubMed Link: 19293843
Variant Present in the following documents:
  • Main text
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