Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.E135K
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SMN1

NM_000344.4:p.E135K

Associated Papers

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M et al.

Annals of Clinical and Translational Neurology, 2019

Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1.

Whitehead SE et al.

The Journal of Biological Chemistry, 2002

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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."