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NF1 c.2253_2254insT ;(p.R752*)
Variant ID: 17-29554237-A-AT
NM_001042492.2(
NF1
):c.2253_2254insT;(p.R752*)
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:
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Molecular Therapy. Nucleic Acids
Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D
Publication Date: 2022-06-14
Variant appearance in text: NF1: Arg752fs
PubMed Link:
35433111
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page