Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L182V
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PSEN1

NM_000021.4:p.L182V

Associated Papers

The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.

He D et al.

Journal of Neurology, 2024

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Sun L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

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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."