Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.T274fs
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SMN1

NM_000344.4:p.T274fs

Associated Papers

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Niba ETE et al.

Genes, 2022

Phenotypes of SMA patients retaining SMN1 with intragenic mutation.

Wijaya YOS et al.

Brain & Development, 2021

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.

Takarada T et al.

Brain & Development, 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."