BBS2 c.56T>G ;(p.V19G)

Variant ID: 16-56553719-A-C

NM_031885.3(BBS2):c.56T>G;(p.V19G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.

Cell Journal
Nikkhah, Emad E; Safaralizadeh, Reza R; Mohammadiasl, Javad J; Tahmasebi Birgani, Maryam M; Hosseinpour Feizi, Mohammad Ali MA; Golchin, Neda N
Publication Date: 2018-07

Variant appearance in text: BBS: 56T>G
PubMed Link: 29633607
Variant Present in the following documents:
  • Main text
View BVdb publication page