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.




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