HR c.802C>T ;(p.L268=)

Variant ID: 8-21985153-G-A

NM_005144.4(HR):c.802C>T;(p.L268=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study.

Journal Of Neurology, Neurosurgery, And Psychiatry
Malek, Naveed N; Weil, Rimona S RS; Bresner, Catherine C; Lawton, Michael A MA; Grosset, Katherine A KA; Tan, Manuela M; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas W NW; Ben-Shlomo, Yoav Y; Williams, Nigel W NW; Grosset, Donald G DG; Morris, Huw R HR; ,
Publication Date: 2018-07

Variant appearance in text: HR: L268L
PubMed Link: 29378790
Variant Present in the following documents:
  • Main text
  • jnnp-2017-317348.pdf
View BVdb publication page