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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTSL2

Variant:p.R113C

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ADAMTSL2

NM_014694.4:p.R113C

hg38:chr9:133539798 C>T

Associated Papers

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

36896612 (PubMed )

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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."