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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS2

Variant:p.N1098D

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ADAMTS2

NM_014244.5:p.N1098D

hg38:chr5:179114211 T>C

Associated Papers

Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.

Zhang Y et al.

Human Mutation, 2022

36124393 (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."