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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS1

Variant:p.G594E

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ADAMTS1

NM_006988.5:p.G594E

hg38:chr21:26839946 C>T

Associated Papers

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Dong L et al.

Clinical Genetics, 2025

41263626 (PubMed )

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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."