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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DPM2

Variant:p.P32L

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DPM2

NM_003863.4:p.P32L

hg38:chr9:127936654 G>A

Associated Papers

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.

Chompoopong P et al.

Genes, 2023

36833299 (PubMed )

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M et al.

Brain : a Journal of Neurology, 2015

25681410 (PubMed )

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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."