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TSC2 c.37_39delinsTTT ;(p.E13F)
Variant ID: 16-2098653-GAG-TTT
NM_000548.3(
TSC2
):c.37_39delinsTTT;(p.E13F)
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:
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2015-12-03
Variant appearance in text: TSC2: E13F
PubMed Link:
26632257
Variant Present in the following documents:
Main text
srep17468.pdf
View BVdb publication page