Associated Papers
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M et al.
Kidney International, 2020
Clinical and genetic spectra of kidney disease caused by REN mutations.
Schaeffer C et al.
Kidney International, 2020
Discovery of a Novel Mutation in the REN Gene in Patient With Chronic Progressive Kidney Disease of Unknown Etiology Presenting With Acute Spontaneous Carotid Artery Dissection.
Petrijan T et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2019
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.
Pajusalu S et al.
Molecular Syndromology, 2015
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