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NF1 c.889-7445T>C
Variant ID: 17-29519995-T-C
NM_001042492.2(
NF1
):c.889-7445T>C
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs2905804
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Human Molecular Genetics
Sabbagh, Audrey A; Pasmant, Eric E; Laurendeau, Ingrid I; Parfait, BĂ©atrice B; Barbarot, SĂ©bastien S; Guillot, Bernard B; Combemale, Patrick P; Ferkal, Salah S; Vidaud, Michel M; Aubourg, Patrick P; Vidaud, Dominique D; Wolkenstein, Pierre P; ,
Publication Date: 2009-08-01
Variant appearance in text: rs2905804
PubMed Link:
19417008
Variant Present in the following documents:
Main text
View BVdb publication page