BBS7 c.1043A>G ;(p.E348G)

Variant ID: 4-122766846-T-C

NM_176824.2(BBS7):c.1043A>G;(p.E348G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One
Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M
Publication Date: 2014

Variant appearance in text: BBS7: 1043A>G; Glu348Gly
PubMed Link: 25133751
Variant Present in the following documents:
  • pone.0104281.s001.pdf
View BVdb publication page