LRRK2 c.3681T>A ;(p.F1227L)

Variant ID: 12-40697840-T-A

NM_198578.3(LRRK2):c.3681T>A;(p.F1227L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Biomedicines
Bruno, Francesco F; Laganà, Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R
Publication Date: 2022-09-15

Variant appearance in text: LRRK2: Phe1227Leu
PubMed Link: 36140389
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02288.pdf
View BVdb publication page



Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: LRRK2: Phe1227Leu
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page