Varaico: Literature-Extracted Genetic Variants

Gene:PGAP1
Variant:p.Y626H
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PGAP1

NM_024989.4:p.Y626H

Associated Papers

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Murakami Y et al.

Plos Genetics, 2014

24784135 (PubMed )
Supplement: pgen.1004320.s002.pdf
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