Varaico: Literature-Extracted Genetic Variants

Gene:DPAGT1
Variant:p.D115delFs
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DPAGT1

NM_001382.4:p.D115delFs

Associated Papers

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.

Ammer LS et al.

Journal of Clinical Medicine, 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."