Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.Q100*
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PGAP1

NM_024989.4:p.Q100*

Associated Papers

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Adanur Saglam K et al.

European Journal of Pediatrics, 2025

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A et al.

Clinical Genetics, 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."