Varaico: Literature-Extracted Genetic Variants

Gene:EHHADH
Variant:p.L16del1
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EHHADH

NM_001966.4:p.L16del1

Associated Papers

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Schaeffer C et al.

Disease Models & Mechanisms, 2023

[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

Magistroni R et al.

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0

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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."