BBS2 c.7C>T ;(p.L3=)

Variant ID: 16-56553768-G-A

NM_031885.3(BBS2):c.7C>T;(p.L3=)

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:

The molecular basis of retinal dystrophies in pakistan.

Genes
Khan, Muhammad Imran MI; Azam, Maleeha M; Ajmal, Muhammad M; Collin, Rob W J RW; den Hollander, Anneke I AI; Cremers, Frans P M FP; Qamar, Raheel R
Publication Date: 2014-03-11

Variant appearance in text: BBS: 7C>T
PubMed Link: 24705292
Variant Present in the following documents:
  • Main text
  • genes-05-00176.pdf
View BVdb publication page