Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS9
Variant:p.Q1525fs
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ADAMTS9

NM_182920.2:p.Q1525fs

Associated Papers

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

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.

Rim JH et al.

Biomolecules, 2020

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Choi YJ et al.

American Journal of Human Genetics, 2019

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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."