Varaico: Literature-Extracted Genetic Variants

Gene:PRSS33
Variant:p.L138R
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PRSS33

NM_152891.3:p.L138R

Associated Papers

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Takeichi T et al.

The Journal of Investigative Dermatology, 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."