Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.P659L
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COL5A2

NM_000393.5:p.P659L

Associated Papers

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Ponińska JK et al.

Journal of Translational Medicine, 2022

35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf

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 › SK-N-DZ
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