Varaico: Literature-Extracted Genetic Variants

Gene:PLCB3
Variant:p.A878S
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PLCB3

NM_000932.5:p.A878S

Associated Papers

Fine-mapping genomic loci refines bipolar disorder risk genes.

Koromina M et al.

Nature Neuroscience, 2025

40562893 (PubMed )
Supplement: 41593_2025_1998_MOESM3_ESM.xlsx › Table_S6

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Fine-mapping genomic loci refines bipolar disorder risk genes.

Koromina M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38405768 (PubMed )
Supplement: media-2.xlsx › Table_S6

Phospholipase C families: Common themes and versatility in physiology and pathology.

Katan M et al.

Progress in Lipid Research, 2020

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem S et al.

Journal of Medical Genetics, 2018

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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."