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TSC2 c.225+2T>C
Variant ID: 16-2100489-T-C
NM_000548.3(
TSC2
):c.225+2T>C
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:
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
Molecular Genetics & Genomic Medicine
Kuo, Chieh-Wen CW; Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Hsu, Ching C; Hung, Miao-Zi MZ; Lin, I-Lin IL; Lai, Feipei F; Lee, Ni-Chung NC
Publication Date: 2020-10
Variant appearance in text: TSC2: 225+2T>C
PubMed Link:
32794656
Variant Present in the following documents:
Main text
MGG3-8-e1455.pdf
View BVdb publication page