Varaico: Literature-Extracted Genetic Variants

Gene:PLCB4
Variant:p.H328R
Back to variants list

PLCB4

NM_001377142.1:p.H328R

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

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Vegas N et al.

Human Mutation, 2022

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Romanelli Tavares VL et al.

American Journal of Medical Genetics. Part A, 2017

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."