Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.R61H
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ADAMTSL2

NM_014694.4:p.R61H

Associated Papers

Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia.

Morales AA et al.

Communications Biology, 2025

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

Morales AA et al.

Scientific Reports, 2025

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Camarena V et al.

Jci Insight, 2024

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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."