Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.R340_E342del0
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DSPP

NM_014208.3:p.R340_E342del0

Associated Papers

A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss.

Sadeghi Z et al.

International Medical Case Reports Journal, 2020

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."