FLNB c.2026_2027delinsCT ;(p.G676L)

Variant ID: 3-58094269-GG-CT

NM_001457.3(FLNB):c.2026_2027delinsCT;(p.G676L)

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:

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

The Journal Of Investigative Dermatology
Hosen, Mohammad J MJ; Van Nieuwerburgh, Filip F; Steyaert, Wouter W; Deforce, Dieter D; Martin, Ludovic L; Leftheriotis, Georges G; De Paepe, Anne A; Coucke, Paul J PJ; Vanakker, Olivier M OM
Publication Date: 2015-04

Variant appearance in text: FLNB: G676L
PubMed Link: 25264593
Variant Present in the following documents:
  • jid2014421x1.pdf
View BVdb publication page