Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.Q89*
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PGAP3

NM_033419.5:p.Q89*

Associated Papers

A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.

Alhaidari AI et al.

Cureus, 2022

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.

Da'as SI et al.

Cells, 2020

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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."