Varaico: Literature-Extracted Genetic Variants

Gene:PIGO
Variant:p.R604insFs
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PIGO

NM_032634.4:p.R604insFs

Associated Papers

PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

Zambiasi A et al.

Prenatal Diagnosis, 2025

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

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Song L et al.

Molecular Therapy. Nucleic Acids, 2021

34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

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

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

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."