FBN1 c.577C>T ;(p.Q193*)

Variant ID: 15-48829967-G-A

NM_000138.4(FBN1):c.577C>T;(p.Q193*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: FBN1: 577C>T; Gln193*
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
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