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BBS2 c.1804G>C ;(p.E602Q)
Variant ID: 16-56530985-C-G
NM_031885.3(
BBS2
):c.1804G>C;(p.E602Q)
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:
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Investigative Ophthalmology & Visual Science
Chen, Jianjun J; Smaoui, Nizar N; Hammer, Monia Ben Hamed MB; Jiao, Xiaodong X; Riazuddin, S Amer SA; Harper, Shyana S; Katsanis, Nicholas N; Riazuddin, Sheikh S; Chaabouni, Habiba H; Berson, Eliot L EL; Hejtmancik, J Fielding JF
Publication Date: 2011-07-18
Variant appearance in text: BBS: 1804G>C
PubMed Link:
21642631
Variant Present in the following documents:
Main text
View BVdb publication page