Publications:

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences

Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2021-10-08

Variant appearance in text: PSEN1: Thr99Ala

PubMed Link: 34679393

Variant Present in the following documents:

• Main text
• brainsci-11-01328.pdf

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: PSEN1: T99A

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN1: T99A

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• nihms-1588025.pdf

View BVdb publication page