Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL2
Variant:p.R648C
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ADAMTSL2

NM_014694.4:p.R648C

Associated Papers

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

Piccolo P et al.

Molecular Genetics and Metabolism Reports, 2019

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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."