Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M1I
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PSEN1

NM_000021.4:p.M1I

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28

PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2023

38203287 (PubMed )
Supplement: ijms-25-00116-s001.zip › ijms-2769595-supplementary.pdf

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

Calcium binding properties of gamma-crystallin: calcium ion binds at the Greek key beta gamma-crystallin fold.

Rajini B et al.

The Journal of Biological Chemistry, 2001

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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."