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PSEN1 c.44A>C ;(p.Q15P)
Variant ID: 14-73614771-A-C
NM_000021.3(
PSEN1
):c.44A>C;(p.Q15P)
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:
The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer's disease mutations.
Elife
Seuma, Mireia M; Faure, Andre J AJ; Badia, Marta M; Lehner, Ben B; Bolognesi, Benedetta B
Publication Date: 2021-02-01
Variant appearance in text: PSEN1: Q15P
PubMed Link:
33522485
Variant Present in the following documents:
Main text
View BVdb publication page
The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer's disease mutations.
Elife
Seuma, Mireia M; Faure, Andre J AJ; Badia, Marta M; Lehner, Ben B; Bolognesi, Benedetta B
Publication Date: 2021-02-01
Variant appearance in text: PSEN1: Q15P
PubMed Link:
33522485
Variant Present in the following documents:
Main text
View BVdb publication page