Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: APP: 697G>C; V233L

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Extracellular vesicle sorting of α-Synuclein is regulated by sumoylation.

Acta Neuropathologica

Kunadt, Marcel M; Eckermann, Katrin K; Stuendl, Anne A; Gong, Jing J; Russo, Belisa B; Strauss, Katrin K; Rai, Surya S; Kügler, Sebastian S; Falomir Lockhart, Lisandro L; Schwalbe, Martin M; Krumova, Petranka P; Oliveira, Luis M A LM; Bähr, Mathias M; Möbius, Wiebke W; Levin, Johannes J; Giese, Armin A; Kruse, Niels N; Mollenhauer, Brit B; Geiss-Friedlander, Ruth R; Ludolph, Albert C AC; Freischmidt, Axel A; Feiler, Marisa S MS; Danzer, Karin M KM; Zweckstetter, Markus M; Jovin, Thomas M TM; Simons, Mikael M; Weishaupt, Jochen H JH; Schneider, Anja A

Publication Date: 2015-05

Variant appearance in text: APP: E233Q

PubMed Link: 25778619

Variant Present in the following documents:

• Main text
• 401_2015_Article_1408.pdf

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