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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCHD1

Variant:p.M1T

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PTCHD1

NM_173495.3:p.M1T

hg38:chrX:23334877 T>C

Associated Papers

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

Pastore SF et al.

Genes, 2022

35328080 (PubMed )

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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."