TSC2 c.1443+71A>G

Variant ID: 16-2113125-A-G

NM_000548.3(TSC2):c.1443+71A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Bmc Medical Genetics
Nellist, Mark M; Brouwer, Rutger W W RW; Kockx, Christel E M CE; van Veghel-Plandsoen, Monique M; Withagen-Hermans, Caroline C; Prins-Bakker, Lida L; Hoogeveen-Westerveld, Marianne M; Mrsic, Alan A; van den Berg, Mike M P MM; Koopmans, Anna E AE; de Wit, Marie-Claire MC; Jansen, Floor E FE; Maat-Kievit, Anneke J A AJ; van den Ouweland, Ans A; Halley, Dicky D; de Klein, Annelies A; van IJcken, Wilfred F J WF
Publication Date: 2015-02-25

Variant appearance in text: TSC2: 1443+71A>G
PubMed Link: 25927202
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_155.pdf
View BVdb publication page