Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.D122E
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DTX1

NM_004416.3:p.D122E

Associated Papers

CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.

Yun Y et al.

Communications Biology, 2020

31959876 (PubMed )
Supplement: 42003_2020_755_MOESM4_ESM.pdf

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

Notch pathway activation is essential for maintenance of stem-like cells in early tongue cancer.

Upadhyay P et al.

Oncotarget, 2016

27391340 (PubMed )
Supplement: oncotarget-07-50437-s001.pdf

Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type.

Lee S et al.

Oncotarget, 2015

25980440 (PubMed )
Supplement: oncotarget-06-17764-s002.xlsx › Table_S3
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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."