Varaico: Literature-Extracted Genetic Variants

Gene:STAB1
Variant:p.S2129R
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STAB1

NM_015136.3:p.S2129R

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S
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