Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.W20*
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PIGL

NM_004278.4:p.W20*

Associated Papers

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders.

Altassan R et al.

Molecular Genetics and Metabolism Reports, 2018

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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."