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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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