Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44
Variant:p.W10R
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TIMM44

NM_006351.4:p.W10R

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

37283036 (PubMed )
Supplement: dmm-16-049963-s1.pdf

[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

Magistroni R et al.

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

27067212 (PubMed )
Supplement: dmm049963supp.pdf
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