CLN5 c.379dup ;(p.T127Nfs*11)

Variant ID: 13-77570074-T-TA

NM_006493.2(CLN5):c.379dup;(p.T127Nfs*11)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Orphanet Journal Of Rare Diseases
Santorelli, Filippo Maria FM; Garavaglia, Barbara B; Cardona, Francesco F; Nardocci, Nardo N; Bernardina, Bernardo Dalla BD; Sartori, Stefano S; Suppiej, Agnese A; Bertini, Enrico E; Claps, Dianela D; Battini, Roberta R; Biancheri, Roberta R; Filocamo, Mirella M; Pezzini, Francesco F; Simonati, Alessandro A
Publication Date: 2013-02-02

Variant appearance in text: CLN5: 526_527insA
PubMed Link: 23374165
Variant Present in the following documents:
  • 1750-1172-8-19-S1.xls, sheet 1
View BVdb publication page