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TSC2 c.2384dup ;(p.L796Pfs*22)
Variant ID: 16-2124226-A-AG
NM_000548.3(
TSC2
):c.2384dup;(p.L796Pfs*22)
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:
Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis.
Histopathology
Yan, Zhen Z; Grenert, James P JP; Joseph, Nancy M NM; Ren, Chuanli C; Chen, Xin X; Shafizadeh, Nafis N; Kakar, Sanjay S
Publication Date: 2018-07
Variant appearance in text: TSC2: 2382dupG
PubMed Link:
29512829
Variant Present in the following documents:
Main text
View BVdb publication page