Varaico: Literature-Extracted Genetic Variants

Gene:PLCB4
Variant:p.D360N
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PLCB4

NM_001377142.1:p.D360N

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

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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."