PSEN1 c.563_564delinsAG ;(p.T188K)

Variant ID: 14-73659366-CC-AG

NM_000021.3(PSEN1):c.563_564delinsAG;(p.T188K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

American Journal Of Human Genetics
Finckh, U U; Müller-Thomsen, T T; Mann, U U; Eggers, C C; Marksteiner, J J; Meins, W W; Binetti, G G; Alberici, A A; Hock, C C; Nitsch, R M RM; Gal, A A
Publication Date: 2000-01

Variant appearance in text: PS1: T188K
PubMed Link: 10631141
Variant Present in the following documents:
  • Main text
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