Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.Y169*
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PGAP3

NM_033419.5:p.Y169*

Associated Papers

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Bayat A et al.

Clinical Genetics, 2023

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

Alhaidari AI et al.

Cureus, 2022

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Akgün Doğan Ö et al.

European Journal of Medical 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."