Varaico: Literature-Extracted Genetic Variants

Gene:PLCB4
Variant:p.N329S
Back to variants list

PLCB4

NM_001377142.1:p.N329S

Associated Papers

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.

Zhang Y et al.

Molecular Genetics & Genomic Medicine, 2024

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Clouthier DE et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Gordon CT et al.

Journal of Medical Genetics, 2013

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Rieder MJ et al.

American Journal of Human Genetics, 2012

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."