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NF1 c.7325del ;(p.L2442Yfs*14)
Variant ID: 17-29677201-CT-C
NM_001042492.2(
NF1
):c.7325del;(p.L2442Yfs*14)
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:
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
European Journal Of Human Genetics : Ejhg
Ben-Shachar, Shay S; Constantini, Shlomi S; Hallevi, Hen H; Sach, Emma K EK; Upadhyaya, Meena M; Evans, Gareth D GD; Huson, Susan M SM
Publication Date: 2013-05
Variant appearance in text: NF1: 7324del
PubMed Link:
23047742
Variant Present in the following documents:
Main text
View BVdb publication page