Varaico: Literature-Extracted Genetic Variants

Gene:PLCD1
Variant:p.E341A
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PLCD1

NM_006225.4:p.E341A

Associated Papers

Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.

Liu K et al.

The Journal of Investigative Dermatology, 2021

Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function.

Nomikos M et al.

The Febs Journal, 2016

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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."