Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.S111L
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PGAP3

NM_033419.5:p.S111L

Associated Papers

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient.

Loubser C et al.

American Journal of Medical Genetics. Part A, 2025

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-07
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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."