Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.L276P
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PIGW

NM_001346754.2:p.L276P

Associated Papers

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Carrer A et al.

Genes, 2025

Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants.

Chen X et al.

Prenatal Diagnosis, 2025

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Feresin A et al.

Biomolecules, 2024

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Ronzoni L et al.

Prenatal Diagnosis, 2022

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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."