Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.R168C
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EMD

NM_000117.3:p.R168C

Associated Papers

A β-cap on the FliPQR protein-export channel acts as the cap for initial flagellar rod assembly.

Kinoshita M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40833400 (PubMed )
Supplement: pnas.2507221122.sapp.pdf

Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.

Martin GM et al.

Molecular and Cellular Endocrinology, 2020

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S et al.

Journal of the Neurological Sciences, 2014

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