Varaico: Literature-Extracted Genetic Variants

Gene:PIGT
Variant:p.H86R
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PIGT

NM_015937.6:p.H86R

Associated Papers

A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

Klangjorhor J et al.

International Journal of Molecular Sciences, 2025

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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."