Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.R2493fs
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CPLANE1

NM_001384732.1:p.R2493fs

Associated Papers

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M et al.

Human Genetics, 2015

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E et al.

Human Genetics, 2014

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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."