BBS2 c.1033A>T ;(p.K345*)

Variant ID: 16-56536276-T-A

NM_031885.3(BBS2):c.1033A>T;(p.K345*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Molecular Vision
Kanda, Atsuhiro A; Swaroop, Anand A
Publication Date: 2009-10-24

Variant appearance in text: BBS: K345X
PubMed Link: 19898638
Variant Present in the following documents:
  • Main text
  • mv-v15-2174.pdf
View BVdb publication page