Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.N648S
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INVS

NM_014425.5:p.N648S

Associated Papers

INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.

Sawada Y et al.

Kidney Medicine, 2025

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
.

Tang X et al.

Clinical Nephrology, 2019

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