Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.V134insFs
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PGAP3

NM_001291726.2:p.V134insFs

Associated Papers

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

Abdel-Hamid MS et al.

Clinical Genetics, 2018

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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."