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NF1 c.2131dup ;(p.R711Pfs*5)
Variant ID: 17-29553580-T-TC
NM_001042492.2(
NF1
):c.2131dup;(p.R711Pfs*5)
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:
Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.
Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02
Variant appearance in text: NF1: 2130dupC; R711Pfs*5
PubMed Link:
34413458
Variant Present in the following documents:
41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page