Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.S290A
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SMN1

NM_000344.4:p.S290A

Associated Papers

The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA).

Detering NT et al.

Cellular and Molecular Life Sciences : Cmls, 2022

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN.

Rademacher S et al.

Cells, 2020

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."