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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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