Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.N599insFs
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PTCHD1

NM_173495.3:p.N599insFs

Associated Papers

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.

Pastore SF et al.

Genes, 2022

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A et al.

Clinical Genetics, 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."