TSC2 c.5252_5259+19del

Variant ID: 16-2138312-CGGCTCCGCCAGCGGGTAGGGAATATGG-C

NM_000548.3(TSC2):c.5252_5259+19del

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

International Journal Of Molecular Sciences
Charzewska, Agnieszka A; Terczyńska, Iwona I; Lipiec, Agata A; Mazurczak, Tomasz T; Górka-Skoczylas, Paulina P; Szlendak, Róża R; Kanabus, Karolina K; Tataj, Renata R; Dawidziuk, Mateusz M; Wojtaś, Bartosz B; Gielniewski, Bartłomiej B; Bal, Jerzy J; Stawicka, Elżbieta E; Hoffman-Zacharska, Dorota D
Publication Date: 2023-01-06

Variant appearance in text: TSC2: 5252_5259+19del
PubMed Link: 36674629
Variant Present in the following documents:
  • Main text
  • ijms-24-01117.pdf
View BVdb publication page



Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg
Overwater, Iris E IE; Swenker, Rob R; van der Ende, Emma L EL; Hanemaayer, Kimberley Bm KB; Hoogeveen-Westerveld, Marianne M; van Eeghen, Agnies M AM; Lequin, Maarten H MH; van den Ouweland, Ans Mw AM; Moll, Henriëtte A HA; Nellist, Mark M; de Wit, Marie-Claire Y MY
Publication Date: 2016-12

Variant appearance in text: TSC2: 5252_5259+19del
PubMed Link: 27406250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18

Variant appearance in text: TSC2: 5252_5259+19del
PubMed Link: 16981987
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-72.pdf
View BVdb publication page