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BBS2 c.205C>T ;(p.L69F)
Variant ID: 16-56548505-G-A
NM_031885.3(
BBS2
):c.205C>T;(p.L69F)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: BBS: L69F
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
VaRank: a simple and powerful tool for ranking genetic variants.
Peerj
Geoffroy, Véronique V; Pizot, Cécile C; Redin, Claire C; Piton, Amélie A; Vasli, Nasim N; Stoetzel, Corinne C; Blavier, André A; Laporte, Jocelyn J; Muller, Jean J
Publication Date: 2015
Variant appearance in text: BBS: L69F
PubMed Link:
25780760
Variant Present in the following documents:
Main text
peerj-03-796.pdf
View BVdb publication page