Varaico: Literature-Extracted Genetic Variants

Gene:PCDH1
Variant:p.K1203R
Back to variants list

PCDH1

NM_032420.5:p.K1203R

Associated Papers

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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."