Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.A305V
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PGAP1

NM_024989.4:p.A305V

Associated Papers

PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature.

Baris S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Bosch DG et al.

European Journal of Human Genetics : Ejhg, 2015

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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."