Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.E400Q
Back to variants list

PCDH19

NM_001184880.2:p.E400Q

Associated Papers

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Cordovado A et al.

Human Mutation, 2025

40226306 (PubMed )
Supplement: 7085599.f1.docx
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."