48 research outputs found

    <i>PRRT2</i> coding variants identified in this study.

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    <p>Schematic diagram of the <i>PRRT2</i> gene and of the three PRRT2 protein isoforms. Mutation identified in this study are indicated in green (controls and HGDP), orange (controls, HGDP, and patients) and red (patients only).</p

    <i>PRRT2</i> coding variants identified in individuals with ASD and controls.

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    a<p>Variants observed in the human genome diversity panel.</p>b<p>The p.A361_P362del was considered as probably damaging since it affects conserved amino acids of PRRT2.</p>c<p>Odds ratio, confidence intervals (CI) and P values were calculated only for populations from European ancestry using a 2-tailed Fisher exact test.</p

    Synonymous and nonsynonymous variations of <i>PRRT2</i> in worldwide populations.

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    a<p>Number of nonsynonymous and synonymous sites for PRRT2 are 668.5 and 231.5, respectively.</p>b<p>For the calculation of the pN/pS for Europe, the value of pS was set to 0.004 (the minimum of 1 synonymous variant observed in 159 individuals).</p

    <i>PRRT2</i> variants identified in individuals from worldwide populations.

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    <p>A total of 961 individuals from the human genome diversity panel (HGDP) were sequenced for all <i>PRRT2</i> exons. The diameter of each circle is proportional to the number of individuals who were sequenced for <i>PRRT2</i>.</p

    <i>CLEC7A</i> alleles and genotypes distribution in patients with Asperger and other ASD types.

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    <p>Other ASD: Classical autism and PDD-NOS</p><p>n: number</p><p>pc: corrected p-value</p><p>OR: odds ratio; 95%</p><p>CI: confidence interval 95%.</p><p><i>CLEC7A</i> alleles and genotypes distribution in patients with Asperger and other ASD types.</p
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