Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L274P
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SDS

NM_006843.3:p.L274P

Associated Papers

Domains and residues of the Saccharomyces cerevisiae hnRNP protein Hrp1 important for transcriptional autoregulation and noncoding RNA termination.

Goguen EC et al.

Genetics, 2023

Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.

Di Cicco E et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA et al.

Human Molecular Genetics, 2005

Physical interaction between recombinational proteins Rhp51 and Rad22 in Schizosaccharomyces pombe.

Kim WJ et al.

The Journal of Biological Chemistry, 2002

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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."