Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.S1021F
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PLCG1

NM_002660.3:p.S1021F

Associated Papers

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Ma M et al.

Elife, 2025

Phosphoinositide-specific phospholipase C enzymes: Recent advances in a long journey.

Macrae C et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Ma M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.

Yang Z et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

A gain-of-function variation in PLCG1 causes a new immune dysregulation disease.

Tao P et al.

The Journal of Allergy and Clinical Immunology, 2023

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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."