NF1 c.1063_1121del ;(p.N355Sfs*4)

Variant ID: 17-29528055-GAACCTGCTTTTTAATCCAAGTAAGCCATTCTCAAGAGGCAGTCAGCCTGCAGATGTGGA-G

NM_001042492.2(NF1):c.1063_1121del;(p.N355Sfs*4)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers
Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M
Publication Date: 2022-12-22

Variant appearance in text: NF1: Asn355_Lys395del
PubMed Link: 36612057
Variant Present in the following documents:
  • cancers-15-00059.pdf
View BVdb publication page



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: Asn355_Lys395del
PubMed Link: 35433111
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports
Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH
Publication Date: 2021-07-06

Variant appearance in text: NF1: Asn355_Lys395del
PubMed Link: 34233200
Variant Present in the following documents:
  • NIHMS1722138-supplement-1.pdf
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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes
Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M
Publication Date: 2020-06-19

Variant appearance in text: NF1: Asn355_Lys395del
PubMed Link: 32575496
Variant Present in the following documents:
  • Main text
  • genes-11-00671.pdf
View BVdb publication page



Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal Of Pediatrics
Santoro, Claudia C; Bernardo, Pia P; Coppola, Antonietta A; Pugliese, Umberto U; Cirillo, Mario M; Giugliano, Teresa T; Piluso, Giulio G; Cinalli, Giuseppe G; Striano, Salvatore S; Bravaccio, Carmela C; Perrotta, Silverio S
Publication Date: 2018-03-22

Variant appearance in text: NF1: Asn355_Lys395del
PubMed Link: 29566708
Variant Present in the following documents:
  • Main text
  • 13052_2018_Article_477.pdf
View BVdb publication page