Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN2
Variant:p.D30N
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GEMIN2

NM_003616.3:p.D30N

Associated Papers

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes AH et al.

Nature Reviews. Neuroscience, 2009

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y et al.

Human Mutation, 2005

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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."