Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E66_P69delFs
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PAH

NM_000277.3:p.E66_P69delFs

Associated Papers

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Schmitz-Abe K et al.

Scientific Reports, 2020

32820185 (PubMed )
Supplement: 41598_2020_70656_MOESM1_ESM.pdf

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW et al.

Neuron, 2013

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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."