Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q235*
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PAH

NM_000277.3:p.Q235*

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

Recessive gene disruptions in autism spectrum disorder.

Doan RN et al.

Nature Genetics, 2019

31209396 (PubMed )
Supplement: NIHMS1528530-supplement-Sup_Tables.xlsx › Supplemental_Table_10

Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Jiang YH et al.

Critical Reviews in Clinical Laboratory Sciences, 2014

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."