Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A53V
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SDS

NM_006843.3:p.A53V

Associated Papers

Dual BACH1 regulation by complementary SCF-type E3 ligases.

Goretzki B et al.

Cell, 2024

Parkinson's disease-associated mutations in α-synuclein alters its lipid-bound state.

Maltseva S et al.

Biophysical Journal, 2024

Anionic lipid vesicles have differential effects on the aggregation of early onset-associated α-synuclein missense mutants.

Watt KJC et al.

The Journal of Biological Chemistry, 2022

SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.

Donato S et al.

Endocrine, 2019

The anti-adipogenic effect of peripheral blood mononuclear cells is absent with PCSK9 loss-of-function variants.

Gagnon A et al.

Obesity (silver Spring, Md.), 2016

A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.

Adhiyanto C et al.

Hemoglobin, 2013

Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.

Gutiérrez-Cirlos C et al.

Annals of Hepatology, 0

[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].

Martínez L et al.

Gaceta Medica De Mexico, 0

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