Publications:

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu262Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Plos One

Guven, Gamze G; Lohmann, Ebba E; Bras, Jose J; Gibbs, J Raphael JR; Gurvit, Hakan H; Bilgic, Basar B; Hanagasi, Hasmet H; Rizzu, Patrizia P; Heutink, Peter P; Emre, Murat M; Erginel-Unaltuna, Nihan N; Just, Walter W; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R

Publication Date: 2016

Variant appearance in text: PSEN1: 784T>G; L262V

PubMed Link: 27632209

Variant Present in the following documents:

• Main text
• pone.0162592.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PSEN1: L262V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology Of Aging

Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A

Publication Date: 2012-08

Variant appearance in text: PSEN1: 784T>G; L262V

PubMed Link: 22503161

Variant Present in the following documents:

• Main text

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