Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.P143insFs
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DROSHA

NM_001382508.1:p.P143insFs

Associated Papers

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Mahamdallie S et al.

The Lancet. Child & Adolescent Health, 2019

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Ekici AB et al.

Kidney International, 2014

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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."