Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.R82H
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PTCHD1

NM_173495.3:p.R82H

Associated Papers

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Torrico B et al.

European Journal of Human Genetics : Ejhg, 2015

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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."