Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L2
Variant:p.L146P
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DNASE1L2

NM_001374.3:p.L146P

Associated Papers

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS et al.

American Journal of Human Genetics, 2016

27839872 (PubMed )
Supplement: mmc1.pdf

Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.

Lindblad O et al.

Oncogene, 2016

26999641 (PubMed )
Supplement: onc201641x2.pdf

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

27245685 (PubMed )
Supplement: 13073_2016_313_MOESM1_ESM.xlsx › S5
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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."