Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A246V
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PSEN1

NM_000021.4:p.A246V

Associated Papers

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2023

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia D et al.

Scientific Reports, 2019

31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_3

Amyloid precursor protein heat shock response in lymphoblastoid cell lines bearing presenilin-1 mutations.

Johnston JA et al.

Biochimica Et Biophysica Acta, 1997

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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."