NF1 c.1225_1260+23del

Variant ID: 17-29528468-TGTGCTGGTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTAA-T

NM_001042492.2(NF1):c.1225_1260+23del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.

Human Mutation
Povysil, Gundula G; Tzika, Antigoni A; Vogt, Julia J; Haunschmid, Verena V; Messiaen, Ludwine L; Zschocke, Johannes J; Klambauer, Günter G; Hochreiter, Sepp S; Wimmer, Katharina K
Publication Date: 2017-07

Variant appearance in text: NF1: 1225_1260+29del
PubMed Link: 28449315
Variant Present in the following documents:
  • Main text
  • HUMU-38-889.pdf
View BVdb publication page