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BBS2 c.478G>C ;(p.G160R)
Variant ID: 16-56544827-C-G
NM_031885.3(
BBS2
):c.478G>C;(p.G160R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Schaefer, Natascha N; Kluck, Christoph J CJ; Price, Kerry L KL; Meiselbach, Heike H; Vornberger, Nadine N; Schwarzinger, Stephan S; Hartmann, Stephanie S; Langlhofer, Georg G; Schulz, Solveig S; Schlegel, Nadja N; Brockmann, Knut K; Lynch, Bryan B; Becker, Cord-Michael CM; Lummis, Sarah C R SC; Villmann, Carmen C
Publication Date: 2015-01-07
Variant appearance in text: BBS: G160R
PubMed Link:
25568133
Variant Present in the following documents:
Main text
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