Varaico: Literature-Extracted Genetic Variants

Gene:GDA
Variant:p.K181T
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GDA

NM_004293.5:p.K181T

Associated Papers

Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.

Pastore SF et al.

Biological Psychiatry Global Open Science, 2025

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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."