Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.K1047E
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PIGO

NM_032634.4:p.K1047E

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

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

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Tanigawa J et al.

Human Mutation, 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."