Publications:

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human Mutation

Andersson, Nadine G NG; Labarque, Veerle V; Letelier, Anna A; Mancuso, Maria Elisa ME; Bührlen, Martina M; Fischer, Kathelijn K; Kartal-Kaess, Mutlu M; Koskenvuo, Minna M; Mikkelsen, Torben T; Ljung, Rolf R; ,

Publication Date: 2020-12

Variant appearance in text: PS1: 218T>C

PubMed Link: 32935414

Variant Present in the following documents:

• Main text

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Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavage.

The Journal Of Biological Chemistry

Williamson, Rebecca L RL; Laulagnier, Karine K; Miranda, André M AM; Fernandez, Marty A MA; Wolfe, Michael S MS; Sadoul, Rémy R; Di Paolo, Gilbert G

Publication Date: 2017-12-01

Variant appearance in text: PSEN1: L73P

PubMed Link: 29021256

Variant Present in the following documents:

• Main text

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