Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS6
Variant:p.S149R
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ADAMTS6

NM_197941.4:p.S149R

Associated Papers

Generation of a conditional Adamts6 mouse allele reveals roles in lung maturation in addition to cardiac and musculoskeletal development.

Sirek JM et al.

Matrix Biology Plus, 2025

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

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Prins BP et al.

Genome Biology, 2018

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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."