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.




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