Varaico: Literature-Extracted Genetic Variants

Gene:PEX2
Variant:p.Y70C
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PEX2

NM_000318.3:p.Y70C

Associated Papers

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D et al.

Plos Genetics, 2019

31034465 (PubMed )
Supplement: pgen.1008088.s007.xlsx › Sheet1

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 › NGP
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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."