LRRK2 c.3087G>T ;(p.Q1029H)

Variant ID: 12-40689437-G-T

NM_198578.3(LRRK2):c.3087G>T;(p.Q1029H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Acta Neuropathologica
Pottier, Cyril C; Bieniek, Kevin F KF; Finch, NiCole N; van de Vorst, Maartje M; Baker, Matt M; Perkersen, Ralph R; Brown, Patricia P; Ravenscroft, Thomas T; van Blitterswijk, Marka M; Nicholson, Alexandra M AM; DeTure, Michael M; Knopman, David S DS; Josephs, Keith A KA; Parisi, Joseph E JE; Petersen, Ronald C RC; Boylan, Kevin B KB; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Veltman, Joris A JA; Gilissen, Christian C; Murray, Melissa E ME; Dickson, Dennis W DW; Rademakers, Rosa R
Publication Date: 2015-07

Variant appearance in text: LRRK2: 3087G>T; Gln1029His
PubMed Link: 25943890
Variant Present in the following documents:
  • Main text
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