Varaico: Literature-Extracted Genetic Variants

Gene:PLCL2
Variant:p.Q371*
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PLCL2

NM_001144382.2:p.Q371*

Associated Papers

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
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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."