Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S100C
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PRRT2

NM_145239.3:p.S100C

Associated Papers

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )
Supplement: KCHL_A_2349823_SM7931.docx

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

Metastasis-associated Mts1 (S100A4) protein modulates protein kinase C phosphorylation of the heavy chain of nonmuscle myosin.

Kriajevska M et al.

The Journal of Biological Chemistry, 1998

Solution structure of rat apo-S100B(beta beta) as determined by NMR spectroscopy.

Drohat AC et al.

Biochemistry, 1996

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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."