Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.G46R
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SDS

NM_006843.3:p.G46R

Associated Papers

Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.

Shen Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Mutational analysis of Thermococcus kodakarensis Endonuclease III reveals the roles of evolutionarily conserved residues.

Shiraishi M et al.

Dna Repair, 2020

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

Solution structure and backbone dynamics of streptopain: insight into diverse substrate specificity.

Wang CC et al.

The Journal of Biological Chemistry, 2009

Leucine 135 of tropomodulin-1 regulates its association with tropomyosin, its cellular localization, and the integrity of sarcomeres.

Kong KY et al.

The Journal of Biological Chemistry, 2006

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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."