Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.K41R
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SMN1

NM_000344.4:p.K41R

Associated Papers

Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system.

Kim JH et al.

Jci Insight, 2022

Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway.

Sánchez-Lanzas R et al.

International Journal of Molecular Sciences, 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."