Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL4
Variant:p.R141*
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ADAMTSL4

NM_019032.6:p.R141*

Associated Papers

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.

Williams KM et al.

Clinical Genetics, 2025

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
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