Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.Y276H
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SMN2

NM_017411.4:p.Y276H

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

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

Niba ETE et al.

Genes, 2022

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI et al.

Brain Communications, 2020

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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."