NF1 c.1875C>T ;(p.L625=)

Variant ID: 17-29552142-C-T

NM_001042492.2(NF1):c.1875C>T;(p.L625=)

This variant was identified in 1 publication

View GRCh38 version.




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: 1875C>T
PubMed Link: 35433111
Variant Present in the following documents:
  • Main text
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