Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.E200A
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PTDSS1

NM_014754.3:p.E200A

Associated Papers

Structural basis for catalytic mechanism of human phosphatidylserine synthase 1.

Ning Y et al.

Cell Discovery, 2025

Molecular insights into human phosphatidylserine synthase 1 reveal its inhibition promotes LDL uptake.

Long T et al.

Cell, 2024

Disease-related PSS1 mutant impedes the formation and function of osteoclasts.

Sugahara S et al.

Journal of Lipid Research, 2023

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Sousa SB et al.

Nature Genetics, 2014

Functional analysis of Chinese hamster phosphatidylserine synthase 1 through systematic alanine mutagenesis.

Ohsawa T et al.

The Biochemical Journal, 2004

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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."