Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.E287*
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PIGC

NM_153747.2:p.E287*

Associated Papers

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Bayat A et al.

European Journal of Human Genetics : Ejhg, 2025

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Varesio C et al.

Diagnostics (basel, Switzerland), 2021

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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."