Varaico: Literature-Extracted Genetic Variants

Gene:THG1L
Variant:p.S123Splc
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THG1L

NM_017872.5:p.S123Splc

Associated Papers

Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.

Han R et al.

Journal of Human Genetics, 2023

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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."