Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.G35G
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PRPF6

NM_012469.4:p.G35G

Associated Papers

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions].

Tanaka K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2013

[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy].

Mano A et al.

Rinsho Shinkeigaku = Clinical Neurology, 2003

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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."