PDE11A c.337_338insTCC ;(p.L112dup)

Variant ID: 2-178936827-T-TGGA

NM_016953.3(PDE11A):c.337_338insTCC;(p.L112dup)

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:

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Plos One
Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V
Publication Date: 2013

Variant appearance in text: PDE11A: 337_338insTCC
PubMed Link: 24358150
Variant Present in the following documents:
  • pone.0082154.s002.xls, sheet 1
View BVdb publication page