Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS9
Variant:p.S636F
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ADAMTS9

NM_182920.2:p.S636F

Associated Papers

Loss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys.

Fischer S et al.

Biorxiv : the Preprint Server for Biology, 2026

Ciliopathy organoid models: a comprehensive review.

Kuzinska MZ et al.

American Journal of Physiology. Cell Physiology, 2024

Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.

Yu S et al.

Frontiers in Medicine, 2023

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