Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.R871Splc
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NPHP4

NM_015102.5:p.R871Splc

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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