Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T421I
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PSEN1

NM_000021.4:p.T421I

Associated Papers

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Perrone F et al.

Alzheimer's Research & Therapy, 2020

32917274 (PubMed )
Supplement: 13195_2020_676_MOESM1_ESM.docx

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › missense

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ et al.

Nature, 2012

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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."