Varaico: Literature-Extracted Genetic Variants

Gene:DAG1
Variant:p.P32L
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DAG1

NM_004393.6:p.P32L

Associated Papers

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

Chompoopong P et al.

Genes, 2023

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G et al.

Orphanet Journal of Rare Diseases, 2018

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M et al.

Brain : a Journal of Neurology, 2015

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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."