LRRK2 c.4317+12del

Variant ID: 12-40703047-CT-C

NM_198578.3(LRRK2):c.4317+12del

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: LRRK2: 4317+12delT; rs200829235
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Medicine
Bartoníková, Tereza T; Menšíková, Kateřina K; Kolaříková, Kristýna K; Vodička, Radek R; Vrtěl, Radek R; Otruba, Pavel P; Kaiserová, Michaela M; Vaštík, Miroslav M; Mikulicová, Lenka L; Ovečka, Josef J; Šáchová, Ludmila L; Dvorský, František F; Krša, Jiří J; Jugas, Petr P; Godava, Marek M; Bareš, Martin M; Janout, Vladimír V; Hluštík, Petr P; Procházka, Martin M; Kaňovský, Petr P
Publication Date: 2018-09

Variant appearance in text: LRRK2: 4317+12delT
PubMed Link: 30235682
Variant Present in the following documents:
  • Main text
  • medi-97-e12313.pdf
View BVdb publication page