Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.L26S
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PIGW

NM_001346754.2:p.L26S

Associated Papers

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Feresin A et al.

Biomolecules, 2024

PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.

Fang Z et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Cavirani B et al.

International Journal of Molecular Sciences, 2024

38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.

Peron A et al.

American Journal of Medical Genetics. Part A, 2020

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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."