Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.D167N
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ADAMTSL2

NM_014694.4:p.D167N

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Legare JM et al.

American Journal of Medical Genetics. Part A, 2018

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013

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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."