Varaico: Literature-Extracted Genetic Variants

Gene:GPC4
Variant:p.Q506*
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GPC4

NM_001448.3:p.Q506*

Associated Papers

Keipert syndrome beyond classical features: novel GPC4 variant associated with epilepsy but preserved cognition.

Bolat H et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

Kuroda Y et al.

American Journal of Medical Genetics. Part A, 2024

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ et al.

American Journal of Human Genetics, 2019

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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."