Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A1
Variant:p.R150K
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SLC45A1

NM_001080397.3:p.R150K

Associated Papers

Disruption of a DNA G-quadruplex causes a gain-of-function SCL45A1 variant relevant to developmental disorders.

Chen Y et al.

Acta Biochimica Et Biophysica Sinica, 2024

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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."