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TSC2 c.1564_1565delinsAC ;(p.H522T)
Variant ID: 16-2114393-CA-AC
NM_000548.3(
TSC2
):c.1564_1565delinsAC;(p.H522T)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation.
Molecular Autism
Alsaqati, Mouhamed M; Heine, Vivi M VM; Harwood, Adrian J AJ
Publication Date: 2020-10-19
Variant appearance in text: TSC2: H522T
PubMed Link:
33076974
Variant Present in the following documents:
Main text
13229_2020_Article_391.pdf
View BVdb publication page
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Journal Of Neurochemistry
Turner, Thomas J TJ; Zourray, Clara C; Schorge, Stephanie S; Lignani, Gabriele G
Publication Date: 2021-04
Variant appearance in text: TSC2: H522T
PubMed Link:
32880951
Variant Present in the following documents:
Main text
View BVdb publication page
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.
International Journal Of Molecular Sciences
Sterlini, Bruno B; Fruscione, Floriana F; Baldassari, Simona S; Benfenati, Fabio F; Zara, Federico F; Corradi, Anna A
Publication Date: 2020-01-12
Variant appearance in text: TSC2: H522T
PubMed Link:
31940887
Variant Present in the following documents:
Main text
ijms-21-00482.pdf
View BVdb publication page
Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models.
Stem Cell Reports
Nadadhur, Aishwarya G AG; Alsaqati, Mouhamed M; Gasparotto, Lisa L; Cornelissen-Steijger, Paulien P; van Hugte, Eline E; Dooves, Stephanie S; Harwood, Adrian J AJ; Heine, Vivi M VM
Publication Date: 2019-01-08
Variant appearance in text: TSC2: H522T
PubMed Link:
30581017
Variant Present in the following documents:
Main text
main.pdf
mmc2.pdf
View BVdb publication page