Varaico: Literature-Extracted Genetic Variants

Gene:PCDHGA5
Variant:p.V592I
Back to variants list

PCDHGA5

NM_018918.3:p.V592I

Associated Papers

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Margot H et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."