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NF1 c.6833_6891del ;(p.C2278Sfs*9)
Variant ID: 17-29665735-TGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCA-T
NM_001042492.2(
NF1
):c.6833_6891del;(p.C2278Sfs*9)
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:
Neurofibromin controls macropinocytosis and phagocytosis in Dictyostelium.
Elife
Bloomfield, Gareth G; Traynor, David D; Sander, Sophia P SP; Veltman, Douwe M DM; Pachebat, Justin A JA; Kay, Robert R RR
Publication Date: 2015-03-27
Variant appearance in text: NF1: 6833_7077del
PubMed Link:
25815683
Variant Present in the following documents:
Main text
elife04940.pdf
View BVdb publication page