Varaico: Literature-Extracted Genetic Variants

Gene:CRCP
Variant:p.Q132R
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CRCP

NM_014478.5:p.Q132R

Associated Papers

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S et al.

The Journal of Clinical Investigation, 2017

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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."