Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.H871P
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PIGO

NM_032634.4:p.H871P

Associated Papers

Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a PIGO mutation.

Wang X et al.

Frontiers in Pediatrics, 2025

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

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Wu T et al.

Orphanet Journal of Rare Diseases, 2020

32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Morren MA et al.

Orphanet Journal of Rare Diseases, 2017

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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."