Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.T122A
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SMN1

NM_000344.4:p.T122A

Associated Papers

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

Yang Y et al.

International Journal of Molecular Sciences, 2023

Regulation of SMN protein stability.

Burnett BG et al.

Molecular and Cellular Biology, 2009

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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."