Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS6
Variant:p.I810L
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ADAMTS6

NM_197941.4:p.I810L

Associated Papers

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Huguet Herrero J et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."