Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS9
Variant:p.R1203W
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ADAMTS9

NM_182920.2:p.R1203W

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

Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.

Huang CY et al.

Discover Oncology, 2024

38981878 (PubMed )
Supplement: 12672_2024_1131_MOESM2_ESM.xlsx › Mutation

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

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.

Matsushita HB et al.

Brain & Development, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."