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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCB4

Variant:p.S643F

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PLCB4

NM_001377142.1:p.S643F

hg38:chr20:9409110 C>T

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

38618928 (PubMed )

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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."