Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.R154S
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PIGW

NM_001346754.2:p.R154S

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

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

Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.

Fu L et al.

Bmc Pediatrics, 2019

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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."