BBS2 c.1169G>T ;(p.S390I)

Variant ID: 16-56535321-C-A

NM_031885.3(BBS2):c.1169G>T;(p.S390I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Publication Date: 2020-01-16

Variant appearance in text: BBS: 1169G>T
PubMed Link: 31963381
Variant Present in the following documents:
  • Main text
  • genes-11-00105.pdf
View BVdb publication page