Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.A310P
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PTCHD1

NM_173495.3:p.A310P

Associated Papers

The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.

Ung DC et al.

Neuroscience and Biobehavioral Reviews, 2025

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

Pastore SF et al.

Genes, 2022

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Halewa J et al.

Human Mutation, 2021

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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."