Varaico: Literature-Extracted Genetic Variants

Gene:CES1
Variant:p.T290M
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CES1

NM_001025194.2:p.T290M

Associated Papers

Discovery of a novel homocysteine thiolactone hydrolase and the catalytic activity of its natural variants.

Hou S et al.

Protein Science : a Publication of the Protein Society, 2024

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Functional Study of Carboxylesterase 1 Protein Isoforms.

Wang X et al.

Proteomics, 2019

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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."