Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D375N
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PCDH19

NM_001184880.2:p.D375N

Associated Papers

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

de Nys R et al.

Molecular Psychiatry, 2024

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham DH 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."