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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAN

Variant:p.Q207K

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ACAN

NM_001369268.1:p.Q207K

hg38:chr15:88840176 C>A

Associated Papers

Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.

Wu H et al.

Journal of Clinical Laboratory Analysis, 2023

36597844 (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."