Varaico: Literature-Extracted Genetic Variants

Gene:PXK
Variant:p.D60A
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PXK

NM_017771.5:p.D60A

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT179_Mutations

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S2
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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."