Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.V299A
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SDS

NM_006843.3:p.V299A

Associated Papers

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.

Hu C et al.

Frontiers in Pediatrics, 2021

Biochemical characterization and structural analysis of a bifunctional cellulase/xylanase from Clostridium thermocellum.

Yuan SF et al.

The Journal of Biological Chemistry, 2015

Interaction of the human prostacyclin receptor with Rab11: characterization of a novel Rab11 binding domain within alpha-helix 8 that is regulated by palmitoylation.

Reid HM et al.

The Journal of Biological Chemistry, 2010

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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."