PSEN1 c.1103T>A ;(p.I368N)

PSEN1 c.1103T>A ;(p.I368N)

Variant ID: 14-73678624-T-A

NM_000021.3(PSEN1):c.1103T>A;(p.I368N)

This variant was identified in 1 publication

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2020-11-12

Variant appearance in text: PSEN1: I368N

PubMed Link: 33180261

Variant Present in the following documents:

12015_2020_Article_10068.pdf

View BVdb publication page

Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports

Venkataraman, Lalitha L; Fair, Summer R SR; McElroy, Craig A CA; Hester, Mark E ME; Fu, Hongjun H

Publication Date: 2022-02

Variant appearance in text: PSEN1: I368N

PubMed Link: 33180261

Variant Present in the following documents:

12015_2020_Article_10068.pdf

View BVdb publication page