Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.W52R
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SDS

NM_006843.3:p.W52R

Associated Papers

Solvent accessibility changes in a Na+-dependent C4-dicarboxylate transporter suggest differential substrate effects in a multistep mechanism.

Sampson CDD et al.

The Journal of Biological Chemistry, 2020

33087444 (PubMed )
Supplement: mmc1.pdf

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

Angelini M et al.

Human Molecular Genetics, 2007

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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."