Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A1
Variant:p.V35M
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SLC45A1

NM_001080397.3:p.V35M

Associated Papers

Compound heterozygous variants in SLC45A1 might cause syndromic intellectual disability by localization failure and activity attenuation in cells.

Zhou C et al.

Clinical Genetics, 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."