All individuals with variants in gene PIGU

3 entries on 1 page. Showing entries 1 - 3.
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VIP     

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Owner     
00260800 Fam1 PubMed: Knaus 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - Turkey - - 0 - - developmental delay see paper; …, severe intellectual disability, epilepsy, brain anomalies 1 2 Johan den Dunnen
00260801 Fam2 PubMed: Knaus 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - - 0 - - developmental delay see paper; …, severe intellectual disability, epilepsy, brain anomalies 1 2 Johan den Dunnen
00260802 Fam3 PubMed: Knaus 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Norway - - 0 - - developmental delay see paper; …, severe intellectual disability, epilepsy, brain anomalies 1 1 Johan den Dunnen
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