Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6
Variant:p.R615H
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SEZ6

NM_178860.5:p.R615H

Associated Papers

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Hoogmartens J et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

33665345 (PubMed )
Supplement: DAD2-13-e12155-s001.docx

Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.

Pigoni M et al.

The Embo Journal, 2020

Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties.

Nash A et al.

Cerebral Cortex (new York, N.y. : 1991), 2020

Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Paracchini L et al.

Alzheimer's Research & Therapy, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."