PSEN2 c.142_143delinsCA ;(p.R48Q)

Variant ID: 1-227071406-AG-CA

NM_000447.2(PSEN2):c.142_143delinsCA;(p.R48Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology Of Disease
Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW
Publication Date: 2016-10

Variant appearance in text: PSEN2: R48Q
PubMed Link: 27312774
Variant Present in the following documents:
  • Main text
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