Varaico: Literature-Extracted Genetic Variants

Gene:PLCB3
Variant:p.E564A
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PLCB3

NM_000932.5:p.E564A

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Surendran P et al.

Nature Genetics, 2020

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
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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."