TSC2 c.4007C>G ;(p.S1336W)

Variant ID: 16-2134230-C-G

NM_000548.3(TSC2):c.4007C>G;(p.S1336W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics
Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S
Publication Date: 2020-02-04

Variant appearance in text: rs148527903
PubMed Link: 32019516
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_953.pdf
View BVdb publication page