Varaico: Literature-Extracted Genetic Variants

Gene:USP42
Variant:p.P930L
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USP42

NM_032172.3:p.P930L

Associated Papers

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Schaeffer C et al.

Scientific Reports, 2019

31406136 (PubMed )
Supplement: 41598_2019_48014_MOESM1_ESM.pdf
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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."