Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.S205_V206delFs
Back to variants list

PIGW

NM_001346754.2:p.S205_V206delFs

Associated Papers

Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.

Rabouhi N et al.

Pediatric Neurology, 2025

Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants.

Chen X et al.

Prenatal Diagnosis, 2025

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

Higashimoto K et al.

Journal of Medical Genetics, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."