Varaico: Literature-Extracted Genetic Variants

Gene:DTX2
Variant:p.N248S
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DTX2

NM_001102594.3:p.N248S

Associated Papers

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.

Alió Del Barrio JL et al.

American Journal of Ophthalmology, 2020

A case report of multiple primary prostate tumors with differential drug sensitivity.

Wilkinson S et al.

Nature Communications, 2020

32054861 (PubMed )
Supplement: 41467_2020_14657_MOESM4_ESM.xlsx › Source_of_Supp_Table_3

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known
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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."