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TSC2 c.230_231delinsAC ;(p.A77D)
Variant ID: 16-2103347-CA-AC
NM_000548.3(
TSC2
):c.230_231delinsAC;(p.A77D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case-control study.
Orphanet Journal Of Rare Diseases
Ding, Yifeng Y; Wang, Ji J; Zhou, Hao H; Li, Taoli T; Zhou, Shuizhen S; Wang, Yi Y
Publication Date: 2021-04-17
Variant appearance in text: TSC2: A77D
PubMed Link:
33865427
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: TSC2: A77D
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page